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1. Full Text Epidemiology of Congenital Upper Limb Anomalies in 562 Children Born in 1997 to 2007: A Total Population Study from Stockholm, Sweden
by Ekblom, Anna Gerber, MD and Laurell, Tobias, MD and Arner, Marianne, MD, PhD
Journal of Hand Surgery, ISSN 0363-5023, 2010, Volume 35, Issue 11, pp. 1742 - 1754
Purpose There are few true epidemiological studies of congenital anomalies of the upper limb (CULA) on total populations in the literature, and most incidence... 
Orthopedics | Congenital upper limb anomaly | epidemiology | incidence | SURGERY | REGISTER | DEFECTS | ABNORMALITIES | HAND ANOMALIES | CLASSIFICATION | DEFICIENCIES | CLEFT HAND | MALFORMATIONS | FREQUENCY | ORTHOPEDICS | Upper Extremity Deformities, Congenital - surgery | Hand Deformities, Congenital - surgery | Hand Deformities, Congenital - epidemiology | Risk Assessment | Humans | Child, Preschool | Infant | Male | Urban Population | Sweden - epidemiology | Hand Deformities, Congenital - diagnosis | Incidence | Upper Extremity Deformities, Congenital - diagnosis | Time Factors | Sex Distribution | Female | Registries | Retrospective Studies | Upper Extremity Deformities, Congenital - epidemiology | Fingers - abnormalities | Child | Infant, Newborn | Epidemiology | Genetic disorders | Index Medicus
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2. Full Text Concurrent dorsal dimelia in 160 consecutive patients with congenital anomalies of the hands and feet
by Al-Qattan, M. M
Journal of Hand Surgery (European Volume), ISSN 1753-1934, 11/2014, Volume 39, Issue 9, pp. 958 - 965
This study was designed to investigate the prevalence of dorsal dimelia in a series of 160 consecutive patients with congenital anomalies of the hands and... 
prevalence | congenital hand | Dorsal dimelia | foot | SURGERY | CLASSIFICATION | EMBRYOLOGY | FINGERNAIL | TOES | LIMB | PALMAR NAIL SYNDROME | THUMB | ORTHOPEDICS | Heart Defects, Congenital - classification | Prospective Studies | Hand Deformities - classification | Humans | Child, Preschool | Hand Deformities, Congenital - classification | Infant | Male | Hand Deformities, Congenital - diagnosis | Spine - abnormalities | Ectromelia - diagnosis | Limb Deformities, Congenital - classification | Female | Child | Foot Deformities, Congenital - epidemiology | Hand Deformities - diagnosis | Trachea - abnormalities | Hand Deformities, Congenital - epidemiology | Cross-Sectional Studies | Foot Deformities, Congenital - diagnosis | Ectromelia - classification | Esophagus - abnormalities | Syndrome | Foot Deformities, Congenital - classification | Anal Canal - abnormalities | Limb Deformities, Congenital - diagnosis | Phenotype | Hand Deformities - epidemiology | Kidney - abnormalities | Limb Deformities, Congenital - epidemiology | Heart Defects, Congenital - epidemiology | Heart Defects, Congenital - diagnosis | Ectromelia - epidemiology | Thumb - abnormalities | Index Medicus
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3. Full Text Whole-exome resequencing reveals recessive mutations in TRAP1 in individuals with CAKUT and VACTERL association
by Saisawat, Pawaree and Kohl, Stefan and Hilger, Alina C and Hwang, Daw-Yang and Yung Gee, Heon and Dworschak, Gabriel C and Tasic, Velibor and Pennimpede, Tracie and Natarajan, Sivakumar and Sperry, Ethan and Matassa, Danilo S and Stajić, Nataša and Bogdanovic, Radovan and de Blaauw, Ivo and Marcelis, Carlo L.M and Wijers, Charlotte H.W and Bartels, Enrika and Schmiedeke, Eberhard and Schmidt, Dominik and Märzheuser, Stefanie and Grasshoff-Derr, Sabine and Holland-Cunz, Stefan and Ludwig, Michael and Nöthen, Markus M and Draaken, Markus and Brosens, Erwin and Heij, Hugo and Tibboel, Dick and Herrmann, Bernhard G and Solomon, Benjamin D and de Klein, Annelies and van Rooij, Iris A.L.M and Esposito, Franca and Reutter, Heiko M and Hildebrandt, Friedhelm
Kidney International, ISSN 0085-2538, 06/2014, Volume 85, Issue 6, pp. 1310 - 1317
Congenital abnormalities of the kidney and urinary tract (CAKUT) account for approximately half of children with chronic kidney disease and they are the most... 
genetics and development | ureteric bud | renal development | vesicoureteral reflux | renal agenesis | genetic renal disease | HETEROTAXY | UROLOGY & NEPHROLOGY | DISORDERS | KIDNEY | Limb Deformities, Congenital - genetics | Predictive Value of Tests | Vesico-Ureteral Reflux - genetics | Age Factors | Kidney - embryology | United States | Humans | Urogenital Abnormalities | Male | DNA Mutational Analysis - methods | Exosomes | Genetic Testing - methods | Spine - abnormalities | Heart Defects, Congenital - genetics | Kidney - metabolism | Gene Expression Regulation, Developmental | Female | HSP90 Heat-Shock Proteins - genetics | Trachea - abnormalities | Genetic Predisposition to Disease | Vesico-Ureteral Reflux - diagnosis | Europe | Risk Factors | Esophagus - abnormalities | Multiplex Polymerase Chain Reaction | Gestational Age | Anal Canal - abnormalities | Homozygote | Limb Deformities, Congenital - diagnosis | Animals | Kidney - abnormalities | Pedigree | HSP90 Heat-Shock Proteins - metabolism | Heart Defects, Congenital - diagnosis | High-Throughput Nucleotide Sequencing | Mice | Mutation | Index Medicus
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4. Full Text Congenital anal atresia with rectovestibular fistula, scoliosis, unilateral renal agenesis, and finger defect (VACTERL association) in a patient with partial bicornuate uterus and distal vaginal atresia: A case report
by Kang, Jia and Mao, Meng and Zhang, Ye and Ai, Fang-Fang and Zhu, Lan
Medicine, ISSN 0025-7974, 11/2018, Volume 97, Issue 45, pp. e12822 - e12822
Rationale: Vertebral defect, anal atresia, cardiac defect, tracheoesophageal fistula/esophageal atresia, renal defect, and limb defect (VACTERL) association... 
rare diseases | MEDICINE, GENERAL & INTERNAL | mullerian duct abnormality | ANOMALIES | distal vaginal atresia | VACTERL association | Abnormalities, Multiple - etiology | Anus, Imperforate - etiology | Solitary Kidney - congenital | Heart Defects, Congenital - etiology | Humans | Vagina - abnormalities | Uterus - abnormalities | Esophagus - abnormalities | Anal Canal - abnormalities | Spine - abnormalities | Limb Deformities, Congenital - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Limb Deformities, Congenital - etiology | Rectal Fistula - congenital | Adolescent | Female | Heart Defects, Congenital - diagnosis | Fingers - abnormalities | Anus, Imperforate - diagnosis | Scoliosis - congenital | Trachea - abnormalities | Case studies | Care and treatment | Abnormalities | Diagnosis | Children | Genitourinary organs | Genital diseases, Female | Diseases | Index Medicus | Abridged Index Medicus
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5. Full Text Congenital limb deficiency in Japan: A cross-sectional nationwide survey on its epidemiology
by Mano, Hiroshi and Fujiwara, Sayaka and Takamura, Kazuyuki and Kitoh, Hiroshi and Takayama, Shinichiro and Ogata, Tsutomu and Hashimoto, Shuji and Haga, Nobuhiko
BMC Musculoskeletal Disorders, ISSN 1471-2474, 07/2018, Volume 19, Issue 1, pp. 262 - 262
Background: Congenital limb deficiency is a rare and intractable disease, which impairs both function and appearance of the limbs. To establish adequate... 
Cross-sectional study | Nationwide survey | Birth prevalence | Congenital limb deficiency | Epidemiology | PROSTHETIC MANAGEMENT | MOYAMOYA-DISEASE | ANOMALIES | FIBULAR HEMIMELIA | RHEUMATOLOGY | FEATURES | AMPUTATION | CHILDREN | CONTROVERSIES | LONGITUDINAL DEFICIENCY | PANCREATITIS | ORTHOPEDICS | Upper Extremity Deformities, Congenital - surgery | Japan - epidemiology | Age Distribution | Prevalence | Cross-Sectional Studies | Humans | Child, Preschool | Infant | Lower Extremity Deformities, Congenital - diagnosis | Male | Lower Extremity Deformities, Congenital - epidemiology | Upper Extremity Deformities, Congenital - diagnosis | Health Surveys | Time Factors | Sex Distribution | Female | Lower Extremity Deformities, Congenital - surgery | Upper Extremity Deformities, Congenital - epidemiology | Child | Infant, Newborn | Genetic aspects | Research | Analysis | Abnormalities | Extremities (Anatomy) | Prostheses | Limbs | Congenital diseases | Pancreatitis | Births | Patients | Defects | Confidence intervals | Sex ratio | Hospitals | Surgery | Cooperation | Response rates | Fingers & toes | Index Medicus
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6. Full Text CHILD syndrome mimicking verrucous nevus in a Chinese patient responded well to the topical therapy of compound of simvastatin and cholesterol
by Yu, X and Zhang, J and Gu, Y and Deng, D and Wu, Z and Bao, L and Li, M and Yao, Z
Journal of the European Academy of Dermatology and Venereology, ISSN 0926-9959, 07/2018, Volume 32, Issue 7, pp. 1209 - 1213
Background Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD) syndrome is a rare X-linked dominant disorder characterized by... 
VERRUCIFORM XANTHOMA | SKIN-LESIONS | NSDHL | GENE | ABNORMALITIES | CONGENITAL HEMIDYSPLASIA | MUTATION | DISEASE | DISORDER | ICHTHYOSIFORM ERYTHRODERMA | DERMATOLOGY | Abnormalities, Multiple - pathology | Limb Deformities, Congenital - genetics | Sequence Deletion | Diagnosis, Differential | Exons | Humans | Ichthyosiform Erythroderma, Congenital - pathology | Genetic Diseases, X-Linked - diagnosis | Limb Deformities, Congenital - diagnosis | Ichthyosiform Erythroderma, Congenital - diagnosis | Nevus, Sebaceous of Jadassohn - diagnosis | Abnormalities, Multiple - diagnosis | Base Sequence | Skin Neoplasms - diagnosis | Genetic Diseases, X-Linked - pathology | Female | Genetic Diseases, X-Linked - genetics | 3-Hydroxysteroid Dehydrogenases - genetics | Child | Abnormalities, Multiple - genetics | Ichthyosiform Erythroderma, Congenital - genetics | Limb Deformities, Congenital - pathology | Care and treatment | Gene mutations | Dermatology | Simvastatin | Formulae, receipts, prescriptions | Medical genetics | Skin diseases | Dermatologic agents | Skin | Genetic screening | Cholesterol | Antilipemic agents | Index Medicus
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7. Full Text WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
by White, Janson J and Mazzeu, Juliana F and Coban-Akdemir, Zeynep and Bayram, Yavuz and Bahrambeigi, Vahid and Hoischen, Alexander and van Bon, Bregje W.M and Gezdirici, Alper and Gulec, Elif Yilmaz and Ramond, Francis and Touraine, Renaud and Thevenon, Julien and Shinawi, Marwan and Beaver, Erin and Heeley, Jennifer and Hoover-Fong, Julie and Durmaz, Ceren D and Karabulut, Halil Gurhan and Marzioglu-Ozdemir, Ebru and Cayir, Atilla and Duz, Mehmet B and Seven, Mehmet and Price, Susan and Ferreira, Barbara Merfort and Vianna-Morgante, Angela M and Ellard, Sian and Parrish, Andrew and Stals, Karen and Flores-Daboub, Josue and Jhangiani, Shalini N and Gibbs, Richard A and Brunner, Han G and Sutton, V. Reid and Lupski, James R and Carvalho, Claudia M.B and Baylor-Hopkins Ctr Mendelian and Baylor-Hopkins Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 01/2018, Volume 102, Issue 1, pp. 27 - 43
Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal... 
Frizzled | human embryonic development | skeletal dysplasia | dual molecular diagnosis | MENDELIAN-INHERITANCE | PROTEIN | DEP DOMAIN | NEURAL-TUBE DEFECTS | GENETICS & HEREDITY | AUTOSOMAL-DOMINANT | GROWTH-PLATE | MUTATIONS | DROSOPHILA TISSUE POLARITY | VERTEBRATE GASTRULATION | CELL POLARITY | Limb Deformities, Congenital - genetics | Humans | Middle Aged | Child, Preschool | Male | Dwarfism - diagnosis | Mutation, Missense - genetics | Genes, Dominant | Base Sequence | Adult | Female | Child | Craniofacial Abnormalities - genetics | Diagnosis, Differential | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Genetic Heterogeneity | Dwarfism - genetics | Limb Deformities, Congenital - diagnosis | Phenotype | Craniofacial Abnormalities - diagnosis | Wnt Signaling Pathway - genetics | Adolescent | Chromosome Segregation - genetics | Urogenital Abnormalities - genetics | Index Medicus | Life Sciences | Genetics | Human genetics
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8. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
by Kariminejad, Ariana and Ajeawung, Norbert Fonya and Bozorgmehr, Bita and DIonne-Laporte, Alexandre and Molidperee, Sirinart and Najafi, Kimia and Gibbs, Richard A and Lee, Brendan H and Hennekam, Raoul C and Campeau, Philippe M
Journal of Human Genetics, ISSN 1434-5161, 04/2017, Volume 62, Issue 4, pp. 465 - 471
Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial... 
BLEPHAROPHIMOSIS | LIGASE UBE3B | MUTATIONS | GENE | OCULOCEREBROFACIAL SYNDROME | GENETICS & HEREDITY | Eczema - diagnosis | Limb Deformities, Congenital - genetics | Eczema - genetics | Microcephaly - genetics | Face - abnormalities | Humans | Child, Preschool | Limb Deformities, Congenital - physiopathology | Male | Hand Deformities, Congenital - diagnosis | Intellectual Disability - genetics | Micrognathism - diagnosis | Facies | Adult | Female | Microcephaly - physiopathology | Child | Neck - physiopathology | Abnormalities, Multiple - genetics | Eczema - physiopathology | Micrognathism - physiopathology | Diagnosis, Differential | Eye Abnormalities - diagnosis | Micrognathism - genetics | Growth Disorders - diagnosis | Microcephaly - diagnosis | Neck - abnormalities | Eye Abnormalities - genetics | Sequence Analysis, DNA | Abnormalities, Multiple - physiopathology | Face - physiopathology | Intellectual Disability - physiopathology | Carrier Proteins - genetics | Limb Deformities, Congenital - diagnosis | Hand Deformities, Congenital - genetics | Hand Deformities, Congenital - physiopathology | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Eye Abnormalities - physiopathology | Mutation | Growth Disorders - genetics | Ubiquitin-Protein Ligases - genetics | Pathology, Molecular | Karyotype | Growth Disorders - physiopathology
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9. Full Text DVL3 Alleles Resulting in a −1 Frameshift of the Last Exon Mediate Autosomal-Dominant Robinow Syndrome
by White, Janson J and Mazzeu, Juliana F and Hoischen, Alexander and Bayram, Yavuz and Withers, Marjorie and Gezdirici, Alper and Kimonis, Virginia and Steehouwer, Marloes and Jhangiani, Shalini N and Muzny, Donna M and Gibbs, Richard A and van Bon, Bregje W.M and Sutton, V. Reid and Lupski, James R and Brunner, Han G and Carvalho, Claudia M.B and Baylor-Hopkins Ctr Mendelian Genom and Baylor-Hopkins Center for Mendelian Genomics
The American Journal of Human Genetics, ISSN 0002-9297, 03/2016, Volume 98, Issue 3, pp. 553 - 561
Robinow syndrome is a rare congenital disorder characterized by mesomelic limb shortening, genital hypoplasia, and distinctive facial features. Recent reports... 
REGULATE CONVERGENT EXTENSION | DISEASES | GENE | POLARITY | PATHWAY | GENETICS & HEREDITY | MECHANISMS | POLYMERIZATION | ROR2 | MUTATIONS | Limb Deformities, Congenital - genetics | Sequence Deletion | Frameshift Mutation | Exons | Humans | Molecular Sequence Data | Male | Wnt-5a Protein | Dwarfism - diagnosis | Genetic Variation | Wnt Proteins - genetics | Base Sequence | Female | Dishevelled Proteins | Craniofacial Abnormalities - genetics | Urogenital Abnormalities - diagnosis | Proto-Oncogene Proteins - genetics | Codon, Nonsense | Phosphoproteins - genetics | Sequence Analysis, DNA | Dwarfism - genetics | Limb Deformities, Congenital - diagnosis | Craniofacial Abnormalities - diagnosis | Adaptor Proteins, Signal Transducing - genetics | Alleles | Receptor Tyrosine Kinase-like Orphan Receptors - genetics | Urogenital Abnormalities - genetics | Allelomorphism | Physiological aspects | Robinow syndrome | Gene mutations | Health aspects | Genotype & phenotype | Genetic disorders | Mutation | Medical diagnosis | Index Medicus | Report
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10. Full Text Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
by Tabor, Holly K and Stock, Jacquie and Brazg, Tracy and McMillin, Margaret J and Dent, Karin M and Yu, Joon‐Ho and Shendure, Jay and Bamshad, Michael J
American Journal of Medical Genetics Part A, ISSN 1552-4825, 06/2012, Volume 158A, Issue 6, pp. 1310 - 1319
Scientific evidence on the extent to which ethical concerns about privacy, confidentiality, and return of results for whole genome sequencing (WGS) are... 
whole genome sequencing | results return | participant preferences | informed consent | Informed consent | Results return | Whole genome sequencing | Participant preferences | CHALLENGE | RECOMMENDATIONS | GENETICS & HEREDITY | RESEARCH ETHICS | Limb Deformities, Congenital - genetics | Risk Assessment | Humans | Micrognathism - genetics | Sequence Analysis, DNA - ethics | Informed Consent | Limb Deformities, Congenital - diagnosis | Micrognathism - diagnosis | Privacy | Mandibulofacial Dysostosis - genetics | Mandibulofacial Dysostosis - diagnosis | Confidentiality | Abnormalities, Multiple - diagnosis | Surveys and Questionnaires | Genome, Human | Abnormalities, Multiple - genetics | Index Medicus
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11. Full Text Knee Deformities in Children With Down Syndrome: A Focus on Knee Malalignment
by Duque Orozco, Maria del Pilar and Abousamra, Oussama and Chen, Brian Po-Jung and Rogers, Kenneth J and Sees, Julieanne P and Miller, Freeman
Journal of Pediatric Orthopaedics, ISSN 0271-6798, 05/2018, Volume 38, Issue 5, pp. 266 - 273
BACKGROUND:Patellofemoral instability (PFI) has been the most reported knee abnormality in people with Down syndrome. Other reported knee abnormalities have... 
patellofemoral instability | knee joint | Down syndrome | PATELLAR INSTABILITY | STABILITY | SURGICAL-TREATMENT | BIOMECHANICS | TIBIAL PLATEAU | DISLOCATION | PEDIATRICS | ORTHOPEDICS | JOINT | GEOMETRY | Patellofemoral Joint - diagnostic imaging | Humans | Orthopedic Procedures - methods | Male | Limb Deformities, Congenital - diagnosis | Outcome and Process Assessment (Health Care) | Growth Plate | Radiography - methods | Adolescent | Down Syndrome - complications | Patellofemoral Joint - abnormalities | Female | Limb Deformities, Congenital - complications | Retrospective Studies | Orthopedic Procedures - statistics & numerical data | Child | Knee | Complications and side effects | Care and treatment | Medical examination | Abnormalities | Physiological aspects | Pediatric orthopedics | Diagnosis | Hypermobility | Pediatric research | Joints | Index Medicus
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12. Full Text Absent expression of the osteoblast-specific maternally imprinted genes, DLX5 and DLX6, causes split hand/split foot malformation type I
by Rattanasopha, Sawitree and Tongkobpetch, Siraprapa and Srichomthong, Chalurmpon and Kitidumrongsook, Pravit and Suphapeetiporn, Kanya and Shotelersuk, Vorasuk
Journal of Medical Genetics, ISSN 0022-2593, 2014, Volume 51, Issue 12, pp. 817 - 823
Background Split hand/split foot malformation (SHFM) type 1 is characterised by missing central digital rays with clefts of the hands and/or feet, which was... 
TISSUE-SPECIFIC ENHANCERS | HAND/FOOT MALFORMATION | MOUSE | MUTATION | GENETICS & HEREDITY | MICROSATELLITE MARKERS | IDENTIFICATION | LOCUS | HAND | DELETION | FAMILY | Genomic Imprinting | Sequence Deletion | Chromosome Breakpoints | Humans | Male | DNA Copy Number Variations | Organ Specificity - genetics | Female | Foot Deformities, Congenital - pathology | Genetic Linkage | Hand Deformities, Congenital - diagnostic imaging | Gene Expression | Limb Deformities, Congenital - metabolism | Transcription Factors - genetics | Homeodomain Proteins - genetics | Radiography | Limb Deformities, Congenital - diagnosis | Point Mutation | Phenotype | Comparative Genomic Hybridization | Pedigree | Heterozygote | Foot Deformities, Congenital - diagnostic imaging | Osteoblasts - metabolism | Hand Deformities, Congenital - pathology | Polymerase chain reaction | Usage | Linkage (Genetics) | Comparative genomic hybridization | Exome sequencing | Genetic aspects | Research | Osteoblasts | Risk factors | EEC syndrome | Index Medicus
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13. Congenital malformations resembling VACTERL association in a golden retriever
by Gamito-Gómez, Araceli and Gutierrez-Quintana, Rodrigo and Wessmann, Annette
Journal of the American Animal Hospital Association, ISSN 0587-2871, 01/2018, Volume 54, Issue 1, pp. 60 - 64
A 2 mo old golden retriever presented with malformation of the left thoracic limb and a small circular indentation of the skin in the cranial thoracic spine.... 
VETERINARY SCIENCES | DOG | DERMOID SINUS | CAT | Kidney - surgery | Diagnosis, Differential | Heart Defects, Congenital - surgery | Heart Defects, Congenital - veterinary | Esophagus - abnormalities | Anal Canal - abnormalities | Spine - abnormalities | Limb Deformities, Congenital - diagnosis | Animals | Kidney - abnormalities | Dogs | Anal Canal - surgery | Limb Deformities, Congenital - veterinary | Heart Defects, Congenital - diagnosis | Limb Deformities, Congenital - surgery | Esophagus - surgery | Spine - surgery | Dog Diseases - diagnosis | Trachea - surgery | Dog Diseases - surgery | Trachea - abnormalities
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