Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus

American Journal of Medical Genetics, Part A

Volumn 149, Issue 10, 2009, Pages 2290-2295

  Tüysüz, Beyhan ^a,c   Collin, Anna ^b   Arapoǧlu, Müjde ^a   Suyugül, Nezir ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

^b LUND UNIVERSITY HOSPITAL   (Sweden)

^c ISTANBUL UNIVERSITY   (Turkey)

Author keywords

13q deletion; Clinical variability; EDNRB; Hirschsprung disease; Waardenburg Shah syndrome

Indexed keywords

ENDOTHELIN B RECEPTOR;

ADOLESCENT; ARTICLE; CASE REPORT; CHILD; CHROMOSOME 13Q; CHROMOSOME DELETION; CHROMOSOME DELETION 13; CLINICAL FEATURE; CYTOGENETICS; EDNRB GENE; EYE COLOR; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE MUTATION; HEARING LOSS; HUMAN; HYPOPIGMENTATION; INFANT; IRIS; MALE; PATHOGENESIS; PRIORITY JOURNAL; SYNDROME; WAARDENBURG SHAH SYNDROME; WAARDENBURG SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 13; EYE ABNORMALITIES; FEMALE; GENETIC HETEROGENEITY; GENETIC LOCI; HIRSCHSPRUNG DISEASE; HUMANS; HYPOPIGMENTATION; MALE; PHENOTYPE; RECEPTOR, ENDOTHELIN B; SYNDROME; WAARDENBURG'S SYNDROME;

EID: 70349503633     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33031     Document Type: Article

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