Can Waardenburg syndrome type 2 be explained by epigenetic mosaicism?
نویسندگان
چکیده
منابع مشابه
Waardenburg syndrome Type II.
Two rare cases of Waardenburg type II are reported. First case had three main features of WS--profound SN hearing loss, hetrochromia iris and white forelock of hair. Second case had moderate SNHL and depigmentation of hair.
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PURPOSE To determine the visual characteristics of Japanese subjects with the Waardenburg syndrome type 2. METHODS The visual functions of 11 albino patients who were identified from the screening of 240 children attending a school for children with a hearing deficit were studied. The ophthalmological examinations included eye position, visual acuity, biomicroscopy, ophthalmoscopy, visual fie...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2021
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.62075