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Waardenburg syndrome
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Waardenburg syndrome is a genetic disorder, resulting in defective control of the division and migration of neural crest cells including the melanocyte lineage during embryonic development. Primary involvement of melanocytes results in the characteristic phenotypic involvement including a white forelock, vitiligo, and heterochromia.
5p
viintuit
26-09-2023
0
0
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Waardenburg syndrome is an autosomal dominant disorder with varying degrees of sensorineural hearing loss as well as abnormal pigmentation in hair, skin, and iris. There are four types of Waardenburg syndrome (1–4) with different characteristics.
11p
vigamora
23-05-2023
5
3
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Waardenburg syndrome type 1 (WS1) can be distinguished from Waardenburg syndrome type 2 (WS2) by the presence of dystopia canthorum. About 96% of WS1 are due to PAX3 mutations, and SOX10 mutations have been reported in 15% of WS2.
4p
vidr2711
19-02-2020
14
1
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Waardenburg syndrome (WS) is an auditory–pigmentary disorder that exhibits varying combinations of sensorineural hearing loss and abnormal pigmentation of the hair and skin. WS type 4 (WS4), a subtype of WS, is characterized by the presence of the aganglionic megacolon and is associ-
16p
inspiron33
26-03-2013
29
4
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