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• W2021676372 abstract "We describe the case of a girl with an unusual congenital phenotype, combining peculiar peripheral nerve lesions with hypomyelination, chronic intestinal pseudoobstruction, and deafness. She was found to have a de novo heterozygous frameshift mutation in the gene encoding the SOX10 transcription factor. The likely role of SOX10 in determining the fate of Schwann cells during early embryogenesis may explain the peripheral nervous system developmental disorder observed in this patient." @default.
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• W2021676372 date "2000-10-01" @default.
• W2021676372 modified "2023-10-16" @default.
• W2021676372 title "Peripheral neuropathy with hypomyelination, chronic intestinal pseudo-obstruction and deafness: A developmental ?neural crest syndrome? related to a SOX10 mutation" @default.
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• W2021676372 doi "https://doi.org/10.1002/1531-8249(200010)48:4<671::aid-ana17>3.0.co;2-8" @default.
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