Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH

Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH

Distinct classes of SOX10 mutations result in peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease, collectively known as PCWH. Meanwhile, SOX10 haploinsufficiency caused by allelic loss-of-function mutations leads to a milder non...

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Bibliographic Details
Main Authors: Yukiko Ito, Naoko Inoue, Yukiko U. Inoue, Shoko Nakamura, Yoshiki Matsuda, Masumi Inagaki, Takahiro Ohkubo, Junko Asami, Youhei W. Terakawa, Shinichi Kohsaka, Yu-ichi Goto, Chihiro Akazawa, Takayoshi Inoue, Ken Inoue
Format: Article
Language:English
Published: Elsevier 2015-08-01
Series:Neurobiology of Disease
Subjects:
PCWH
Mutant SOX10
BAC transgenic mouse
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115001606

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