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

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Description scientific article published in April 2017
Author/s

author: Jennifer E. Posey  Tamar Harel  James R. Lupski  Mustafa Tekin 

Publication date April 1, 2017
Language English
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