22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.

Title22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease.
Publication TypeJournal Article
AuthorsFalah, N, Posey, JE, Thorson, W, Benke, P, Tekin, M, Tarshish, B, Lupski, JR, Harel, T
PubMed ID28328136
PubMed Central IDPMC5536953
Grant ListT32 GM007526 / GM / NIGMS NIH HHS / United States
U54 HG006542 / HG / NHGRI NIH HHS / United States
UM1 HG006542 / HG / NHGRI NIH HHS / United States