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A de novo SOX10 mutation in a patient with Waardenburg syndrome type IV

✍ Scribed by Jung, Ho Joo; Jin, Sun A; Choi, Soo Jin Na; Lee, Seung-Chul; Yun, Sook Jung


Book ID
122392774
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
660 KB
Volume
68
Category
Article
ISSN
1097-6787

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## Abstract Type 4 Waardenburg syndrome represents a well define entity caused by neural crest derivatives anomalies (melanocytes, intrinsic ganglion cells, central, autonomous and peripheral nervous systems) leading, with variable expressivity, to pigmentary anomalies, deafness, mental retardation