JAMES LUPSKI to 46, XX Testicular Disorders of Sex Development
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22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A. 2017 Apr; 173(4):1066-1070.
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