A New Microdeletion Syndrome Involving TBC1D24, ATP6V0C, and PDPK1 Causes Epilepsy, Microcephaly, and Developmental Delay.
Bettina E. Mucha,Siddharth Banka,Norbert Fonya Ajeawung,Sirinart Molidperee,Gary G. Chen,Mary Kay Koenig,Rhamat B. Adejumo,Marianne Till,Michael Harbord,Renee Perrier,Emmanuelle Lemyre,Renee-Myriam Boucher,Brian G. Skotko,Jessica L. Waxler,Mary Ann Thomas,Jennelle C. Hodge,Jozef Gecz,Jillian Nicholl,Lesley McGregor,Tobias Linden,Sanjay M. Sisodiya,Damien Sanlaville,Sau W. Cheung,Carl Ernst,Philippe M. Campeau Genetics in Medicine（2018）
关键词
Microdeletion,TBC1D24,Microcephaly,Epilepsy,16p13.3
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