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

Nadia Falah, Jennifer E. Posey, Willa Thorson, Paul Benke, Mustafa Tekin, Brocha Tarshish, James R. Lupski, Tamar Harel

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15 Scopus citations

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