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Clinical Dysmorphology, ISSN 0962-8827, 10/2018, Volume 27, Issue 4, pp. 135 - 137
A 1-month-old full-term female was transferred to our facility from an outside hospital for further evaluation. Pregnancy was complicated by maternal diabetes,... 
HEMIVERTEBRAE | GENETICS & HEREDITY | Bifid distal phalanges | Frontal bossing | Malar hypoplasia | Flat nasal bridge | Anteverted nares | Hypertelorism | Wide nasal bridge | Cleft lip and palate
Journal Article
Prenatal diagnosis, ISSN 0197-3851, 2011, Volume 31, Issue 1, pp. 115 - 124
Journal Article
Journal of Applied Genetics, ISSN 1234-1983, 2/2017, Volume 58, Issue 1, pp. 93 - 98
Chromosome 22q11.2 deletion syndrome, one of the most common human genomic syndromes, has highly heterogeneous clinical presentation. Patients usually harbor a... 
Life Sciences | Human Genetics | 22q11.2 deletion syndrome | NF1 microduplication syndrome | Array comparative genomic hybridization | Microbial Genetics and Genomics | 17q21.31 microdeletion syndrome | chromosome deletion | NAALADL2 | Plant Genetics & Genomics | Animal Genetics and Genomics | chromosome 6p25.3p25.2 deletion | DIGEORGE-SYNDROME | MICROARRAY | ANOMALIES | HYBRIDIZATION | REGION | 10P | CHROMOSOME | MICRODELETIONS | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | VELOCARDIOFACIAL-SYNDROME | GENETICS & HEREDITY | CONGENITAL HEART-DEFECTS | Hearing Loss - diagnosis | Humans | Male | Chromosome Duplication - genetics | Neurofibromatoses - genetics | Chromosomes, Human, Pair 17 - genetics | Intellectual Disability - genetics | Heart Defects, Congenital - genetics | Karyotyping | Facies | Chromosome Disorders - diagnosis | Female | Chromosomes, Human, Pair 1 - genetics | Hypertelorism - diagnosis | Abnormalities, Multiple - genetics | DiGeorge Syndrome - genetics | Chromosome Deletion | Eye Abnormalities - diagnosis | Neurofibromatoses - diagnosis | Hypertelorism - genetics | In Situ Hybridization, Fluorescence | Eye Abnormalities - genetics | Chromosomes, Human, Pair 6 - genetics | Hearing Loss - genetics | DiGeorge Syndrome - diagnosis | Comparative Genomic Hybridization | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Heart Defects, Congenital - diagnosis | Chromosome Disorders - genetics | Gene dosage | High resolution | Test procedures | Disorders | Chromosome 6 | Chromosome deletion | Gene deletion | Dosage | Patients | Haploinsufficiency | Clonal deletion | Deletion | Chromosome 22 | Diagnostic systems | Aberration | Chromosomes | Tbx1 protein | Human Genetics • Original Paper
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 2012, Volume 20, Issue 12, pp. 1224 - 1233
Anterior segment dysgenesis (ASD) encompasses a broad spectrum of developmental conditions affecting anterior ocular structures and associated with an... 
anterior segment dysgenesis | FOXC1 | PITX2 | De Hauwere syndrome | Axenfeld-Rieger syndrome | TRANSCRIPTION FACTOR GENE | GENOTYPE-PHENOTYPE CORRELATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | EPIPHYSEAL DYSPLASIA | FORKHEAD/WINGED-HELIX GENE | 6P25 MICRODELETION SYNDROME | DELETION | AXENFELD-RIEGER-SYNDROME | MALFORMATIONS | CONGENITAL-HYDROCEPHALUS | GENETICS & HEREDITY | Humans | Joint Instability - genetics | Male | Anterior Eye Segment - abnormalities | DNA Copy Number Variations | Muscle Hypotonia - diagnosis | Hearing Loss, Sensorineural - diagnosis | Gene Deletion | Facies | Female | Hydrocephalus - genetics | Hypertelorism - diagnosis | Eye Abnormalities - diagnosis | Hydrocephalus - diagnosis | Joint Instability - diagnosis | Muscle Hypotonia - genetics | Hypertelorism - genetics | Hearing Loss, Sensorineural - genetics | Transcription Factors - genetics | Eye Abnormalities - genetics | Forkhead Transcription Factors - genetics | Oculomotor Muscles - abnormalities | Homeodomain Proteins - genetics | Alleles | Mutation | Bone and Bones - abnormalities | Glaucoma | Heart | Pediatrics | Phenotypes | Neurosciences | Transcription factors | Congenital diseases | Copy number | Gene deletion | Hearing impairment | Gene expression | Patients | Defects | Literature reviews | Hearing | Clonal deletion | Genetics | Deoxyribonucleic acid--DNA | DNA sequencing | Index Medicus | copy number
Journal Article
Journal Article
Journal Article
The Journal of craniofacial surgery, ISSN 1049-2275, 10/2018, Volume 29, Issue 7, pp. 1890 - 1892
Journal Article
Journal Article
Journal Article
Clinical Case Reports, ISSN 2050-0904, 07/2017, Volume 5, Issue 7, pp. 1072 - 1076
This article hypothesizes that it is possible to detect and diagnose both the autosomal recessive and dominant forms prenatally using ultrasound. By focusing... 
autosomal recessive Robinow syndrome | wide nose | genital hypoplasia | hypertelorism | prenatal diagnose | 3D ultrasound | Ultrasonic imaging
Journal Article
Indian journal of dental research : official publication of Indian Society for Dental Research, 01/2016, Volume 27, Issue 1, p. 100
Agenesis of corpus callosum (ACC) can have various development abnormalities spectrum. These include delay in milestones to complex neuropsychiatric... 
Agenesis of Corpus Callosum - diagnosis | Cleft Palate - diagnosis | Cleft Lip - diagnosis | Abnormalities, Multiple - diagnosis | Humans | Hypertelorism - diagnosis
Journal Article
Journal of Craniofacial Surgery, ISSN 1049-2275, 07/2013, Volume 24, Issue 4, pp. e422 - e424
Journal Article