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22q11.2q13 duplication including SOX10 causes sex‐reversal ..:
Falah, Nadia
;
Posey, Jennifer E.
;
Thorson, Willa
...
American Journal of Medical Genetics Part A. 173 (2017) 4 - p. 1066-1070 , 2017
Link:
https://doi.org/10.1002/ajmg.a.38109
RT Journal T1 <Title>22q11.2q13 duplication including SOX10 causes sex‐reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.38109&Exemplar=1&LAN=DE A1 Falah, Nadia A1 Posey, Jennifer E. A1 Thorson, Willa A1 Benke, Paul A1 Tekin, Mustafa A1 Tarshish, Brocha A1 Lupski, James R. A1 Harel, Tamar PB Wiley YR 2017 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 173 IS 4 SP 1066 OP 1070 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.38109 DO https://doi.org/10.1002/ajmg.a.38109 SF ELIB - SuUB Bremen
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