Waardenburg syndrome is a group of rare genetic conditions characterised by at least some degree of congenital hearing loss and pigmentation deficiencies...
49 KB (5,792 words) - 18:24, 7 November 2024
Waardenburg syndrome type 1 is a congenital disorder that caused by a mutation in the PAX3 gene that results in abnormal development in the neural crest...
12 KB (1,465 words) - 17:12, 11 October 2024
considered a separate syndrome, ABCD syndrome is today considered to be a variation of Shah-Waardenburg type IV. Waardenburg syndrome (WS) is described as...
13 KB (1,725 words) - 14:35, 26 May 2024
Waardenburg syndrome type 4A is an extremely rare congenital disorder caused by a mutation in an endothelin receptor gene. It results in common Waardenburg...
9 KB (1,041 words) - 20:51, 15 February 2024
Waardenburg syndrome type 2D, a subtype of the Waardenburg syndrome, is a rare congenital disorder caused by a mutation in the SLUG (SNAI2) gene. It is...
8 KB (985 words) - 17:58, 7 November 2024
partially. Congenital Horner's syndrome – sometimes inherited, although usually acquired. Waardenburg syndrome – a syndrome in which heterochromia is expressed...
26 KB (2,873 words) - 21:06, 1 October 2024
Waardenburg anophthalmia syndrome is a rare autosomal recessive genetic disorder which is characterized by either microphthalmia or anophthalmia, osseous...
6 KB (471 words) - 21:28, 30 November 2023
in the application of genetics to ophthalmology. Waardenburg syndrome is named after him. Waardenburg studied medicine at the Utrecht University from 1904–11...
6 KB (632 words) - 10:48, 28 March 2024
Neural crest (section Waardenburg syndrome)
include conditions such as frontonasal dysplasia, Waardenburg–Shah syndrome, and DiGeorge syndrome. Defining the mechanisms of neural crest development...
41 KB (4,610 words) - 23:01, 30 October 2024
in a "leucistic" appearance include piebaldism, Waardenburg syndrome, vitiligo, Chédiak–Higashi syndrome, flavism, isabellinism, xanthochromism, axanthism...
10 KB (884 words) - 12:18, 8 November 2024