A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay

Autor:	Mucha, Bettina E. 1, Banka, Siddharth 2, Ajeawung, Norbert Fonya 3, Molidperee, Sirinart 3, Chen, Gary G. 4, Koenig, Mary Kay 5, Adejumo, Rhamat B. 5, Till, Marianne 6, Harbord, Michael 7, Perrier, Renee 8, Lemyre, Emmanuelle 9, Boucher, Renee-Myriam 10, Skotko, Brian G. 11, Waxler, Jessica L. 11, Thomas, Mary Ann 8, Hodge, Jennelle C. 12, Gecz, Jozef 13, Nicholl, Jillian 14, McGregor, Lesley 14, Linden, Tobias 15, Sisodiya, Sanjay M. 16, 17, Sanlaville, Damien 6, Cheung, Sau W. 18, Ernst, Carl 4, Campeau, Philippe M. 9
Zdroj:	In Genetics in Medicine May 2019 21(5):1058-1064
Databáze:	ScienceDirect
Externí odkaz:	Zobrazit plný text záznamu Full text from SpringerLink