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Blood Reviews, ISSN 0268-960X, 09/2019, Volume 37, p. 100589
Fanconi anemia (FA) is a genomic instability syndrome with predisposition to congenital abnormalities, bone marrow failure, and cancer. Classical and most... 
Congenital abnormality | Genotype-phenotype association | VACTERL-H | Fanconi anemia | Gene | PHENOS | COMPLEMENTATION GROUP | BIALLELIC MUTATIONS | HEMATOLOGY
Journal Article
Molecular Syndromology, ISSN 1661-8769, 02/2013, Volume 4, Issue 1-2, pp. 87 - 93
Patients with Fanconi anemia (FA) often have birth defects that suggest the diagnosis of VATER association. A review of 2,245 cases of FA reported in the... 
Paper | Birth defects | VACTERL-H | Fanconi anemia | VATER
Journal Article
Birth Defects Research Part A: Clinical and Molecular Teratology, ISSN 1542-0752, 12/2015, Volume 103, Issue 12, pp. 1003 - 1010
Background Fanconi anemia (FA) is a rare genetic disease characterized by congenital malformations, aplastic anemia and increased risk of developing... 
VACTERL‐H association | Fanconi anemia | next generation sequencing | FANCF | genetic heterogeneity | Genetic heterogeneity | Next generation sequencing | VACTERL-H association | DIAGNOSIS | REPAIR | VACTERL | DEVELOPMENTAL BIOLOGY | Genetic research | Genetic aspects | Birth defects | Aplastic anemia | Fanconi's anemia | Index Medicus
Journal Article
Journal Article
日本口腔外科学会雑誌, ISSN 0021-5163, 2018, Volume 64, pp. 605 - 611
VACTERL syndrome is defined by the presence of the following specific anomalies: vertebral anomalies, anal atresia, cardiac abnormalities, tracheo-esophageal... 
開口障害 | 小舌症 | 顎変形症 | 筋突起過形成 | VACTERL-H症候群
Journal Article
Journal of the Turkish German Gynecological Association, ISSN 1309-0399, 2011, Volume 12, Issue 4, pp. 266 - 269
We present two consecutive female fetuses with identical upper limb anomalies. The first of the cases was found to have ventriculomegaly, atrial septal defect,... 
Journal Article
Acta Neuropathologica, ISSN 0001-6322, 2/2009, Volume 117, Issue 2, pp. 185 - 200
Journal Article
Journal of the Turkish German Gynecology Association, ISSN 1309-0399, 2011, Volume 12, Issue 4, pp. 266 - 269
Journal Article
Journal Article
Journal Article
ARCHIVOS ARGENTINOS DE PEDIATRIA, ISSN 0325-0075, 08/2012, Volume 110, Issue 4, pp. E67 - E71
Journal Article
CLINICAL DYSMORPHOLOGY, ISSN 0962-8827, 01/2004, Volume 13, Issue 1, pp. 29 - 30
The association of vertebral, cardiac, renal, limb anomalies, anal atresia, tracheo-esophageal fistula (VACTERL) with hydrocephalus (VACTERL-H) has recently... 
hydrocephalus | triphalangeal thumb | GENETICS & HEREDITY | tracheo-oesophageal fistula | VACTERL-H | anal atresia | primary hypothyroidism | ASSOCIATION | oesophageal atresia | BROTHERS | FAMILY
Journal Article
AMERICAN JOURNAL OF PERINATOLOGY, ISSN 0735-1631, 03/1998, Volume 15, Issue 3, pp. 193 - 197
Sirenomelia represents a severe developmental field defect of the posterior axis caudal blastema, resulting in partial or complete fusion of the lower limb... 
sirenomelia | VATER association | DEFECTS | VACTERL-H association | DYSPLASIA | prenatal ultrasonography | PEDIATRICS | SPECTRUM | VATER | OBSTETRICS & GYNECOLOGY
Journal Article
Birth Defects Research, ISSN 2472-1727, 06/2017, Volume 109, Issue 10, pp. 791 - 804
The most impressive phenotypic appearance of sirenomelia is the presence of a 180°‐rotated, axially positioned, single lower limb. Associated gastrointestinal... 
anatomical museum | sirenomelia | mermaid syndrome | VACTERL‐H | caudal dysgenesis | VACTERL | teratology | blastogenesis | VATER | Mermaid syndrome | Caudal dysgenesis | VACTERL-H | Anatomical museum | Teratology | Blastogenesis | Sirenomelia | BODY-WALL COMPLEX | SURVIVING INFANT | MERMAID-SYNDROME | VITELLINE ARTERY | DEVELOPMENTAL BIOLOGY | CONGENITAL-ANOMALIES | ENVIRONMENTAL-FACTORS | CAUDAL REGRESSION | VACTERL-ASSOCIATION | TOXICOLOGY | SINGLE UMBILICAL ARTERY | PRENATAL-DIAGNOSIS | Abnormalities, Multiple - pathology | Fetus - abnormalities | Urogenital Abnormalities - etiology | Humans | Spine - metabolism | Limb Deformities, Congenital - physiopathology | Trachea - metabolism | Hydrocephalus - metabolism | Anal Canal - metabolism | Spine - abnormalities | Esophagus - physiopathology | Kidney - metabolism | Cardiovascular Abnormalities - physiopathology | Ectromelia - diagnosis | Ectromelia - complications | Hydrocephalus - physiopathology | Anal Canal - physiopathology | Cardiovascular Abnormalities - metabolism | Musculoskeletal Abnormalities - physiopathology | Trachea - physiopathology | Urogenital Abnormalities - physiopathology | Genetic Diseases, X-Linked - physiopathology | Kidney - physiopathology | Trachea - abnormalities | Digestive System Abnormalities - physiopathology | Esophagus - metabolism | Limb Deformities, Congenital - metabolism | Spine - physiopathology | Genetic Diseases, X-Linked - metabolism | Esophagus - abnormalities | Ectromelia - metabolism | Anal Canal - abnormalities | Kidney - abnormalities | Musculoskeletal Abnormalities - metabolism | Ectromelia - physiopathology | Heart Defects, Congenital - metabolism | Heart Defects, Congenital - physiopathology | Digestive System Abnormalities - metabolism | Index Medicus
Journal Article
Clinical dysmorphology, ISSN 0962-8827, 01/2004, Volume 13, Issue 1, pp. 29 - 30
Journal Article
American Journal of Perinatology, ISSN 0735-1631, 1998, Volume 15, Issue 3, pp. 193 - 197
Sirenomelia represents a severe developmental field defect of the posterior axis caudal blastema, resulting in partial or complete fusion of the lower limb... 
VATER association | Sirenomelia | VACTERL-H association | Prenatal ultrasonography | Pregnancy | Ultrasonography, Prenatal | Humans | Fatal Outcome | Hydrocephalus - diagnostic imaging | Adult | Female | Fetal Diseases - diagnostic imaging | Ectromelia - diagnostic imaging | Syndrome
Journal Article
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