Branchiootorenal syndrome and oculoauriculovertebral spectrum features associated with duplication of SIX1, SIX6, and OTX2 resulting from a complex chromosomal rearrangement

American Journal of Medical Genetics, Part A

Volumn 146, Issue 19, 2008, Pages 2480-2489

  Ou, Zhishuo ^a   Martin, Donna M ^b   Bedoyan, Jirair K ^b   Cooper, M Lance ^a   Chinault, A Craig ^a   Stankiewicz, Pawel ^a   Cheung, Sau W ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

Author keywords

Branchiootorenal syndrome; Insertional translocation; Oculoauriculovertebral spectrum; OTX2; Segmental trisomy; SIX1; SIX6

Indexed keywords

ARTICLE; BRANCHIOOTORENAL SYNDROME; CASE REPORT; CHROMOSOME 13; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME DELETION 14Q22.3; CHROMOSOME DELETION 14Q23.3; CHROMOSOME DUPLICATION; CHROMOSOME REARRANGEMENT; CLINICAL FEATURE; CONGENITAL ANALGESIA; CRANIOFACIAL MALFORMATION; DENTITION; DNA MICROARRAY; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GOLDENHAR SYNDROME; HUMAN; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOLOGY; OTX2 GENE; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; SHORT STATURE; SIX1 GENE; SIX6 GENE;

BRANCHIO-OTO-RENAL SYNDROME; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 14; GENE DUPLICATION; GOLDENHAR SYNDROME; HOMEODOMAIN PROTEINS; HUMANS; KARYOTYPING; MALE; MOLECULAR DIAGNOSTIC TECHNIQUES; OTX TRANSCRIPTION FACTORS; TRANS-ACTIVATORS; TRANSLOCATION, GENETIC; TRISOMY;

EID: 55449109980     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32398     Document Type: Article

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