Severe developmental delay in a patient with 7p21.1-p14.3 microdeletion spanning the TWIST gene and the HOXA gene cluster

Molecular Syndromology

Volumn 2, Issue 1, 2011, Pages 45-49

  Fryssira, H ^a   Makrythanasis, P ^b   Kattamis, A ^a   Stokidis, K ^a   Menten, B ^c   Kosaki, K ^d   Willems, P ^e   Kanavakis, E ^a  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^c GHENT UNIVERSITY HOSPITAL   (Belgium)

^d KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^e Genetic Diagnostics Belgium   (Belgium)

Author keywords

array CGH; Contiguous gene syndrome; Hand foot uterus syndrome; HOXA; Saethre Chotzen syndrome; TWIST

Indexed keywords

GENOMIC DNA; HOX PROTEIN; TRANSCRIPTION FACTOR HOXA11; TRANSCRIPTION FACTOR HOXA13; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG;

ACROCEPHALOSYNDACTYLY; ALLELE; ANTEVERTED NOSTRIL; APNEA; ARTICLE; AUTOSOMAL DOMINANT DISORDER; BODY DYSMORPHIC DISORDER; CARDIOPULMONARY INSUFFICIENCY; CASE REPORT; CHILD; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; CYTOGENETICS; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; GENE; GENE CLUSTER; GENE DELETION; GENE MUTATION; GENETIC DISORDER; GREECE; HAND FOOT GENITAL SYNDROME; HAPLOINSUFFICIENCY; HOX GENE; HUMAN; HYPERTRICHOSIS; HYPOSPADIAS; INTERSTITIAL CHROMOSOME DELETION; KIDNEY FAILURE; MALE; NEUROLOGICAL COMPLICATION; PHENOTYPE; PRIORITY JOURNAL; SEVERE DEVELOPMENTAL DELAY; ULTRASOUND;

EID: 83055172156     PISSN: 16618769     EISSN: 16618777     Source Type: Journal    
DOI: 10.1159/000334313     Document Type: Article

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