2.3 Mb terminal deletion in 12p13.33 associated with oculoauriculovertebral spectrum and evaluation of WNT5B as a candidate gene

European Journal of Medical Genetics

Volumn 52, Issue 6, 2009, Pages 446-449

  Rooryck, Caroline ^a,b   Stef, Marianne ^a   Burgelin, Ingrid ^a   Simon, Delphine ^a   Souakri, Noui ^a   Thambo, Jean Benoît ^c   Chateil, Jean François ^b   Lacombe, Didier ^a,b   Arveiler, Benoît ^a,b  

^a UNIVERSITÉ DE BORDEAUX   (France)

^b HÔPITAL PELLEGRIN   (France)

^c BORDEAUX UNIVERSITY HOSPITAL   (France)

Author keywords

12p13.33 deletion; CACNA1C; Goldenhar syndrome; Oculoauriculovertebral spectrum; WNT5B

Indexed keywords

CALCIUM CHANNEL L TYPE; UNCLASSIFIED DRUG; WNT PROTEIN; WNT5B PROTEIN; WNT5B PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 12P; CHROMOSOME DELETION; DEVELOPMENTAL DISORDER; FACE DYSMORPHIA; FEMALE; GENE; GOLDENHAR SYNDROME; HEMIFACIAL MICROSOMIA; HUMAN; MICROTIA; PATENT FORAMEN OVALE; PHENOTYPE; QT INTERVAL; CHROMOSOME 12; GENETICS;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 12; FEMALE; GOLDENHAR SYNDROME; HUMANS; WNT PROTEINS;

EID: 70350620720     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2009.08.005     Document Type: Article

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