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

Mucha, BE; Banka, S; Ajeawung, NF; Molidperee, S; Chen, GG; Koenig, MK; Adejumo, RB; ... Campeau, PM; + view all Mucha, BE; Banka, S; Ajeawung, NF; Molidperee, S; Chen, GG; Koenig, MK; Adejumo, RB; Till, M; Harbord, M; Perrier, R; Lemyre, E; Boucher, R-M; Skotko, BG; Waxler, JL; Thomas, MA; Hodge, JC; Gecz, J; Nicholl, J; McGregor, L; Linden, T; Sisodiya, SM; Sanlaville, D; Cheung, SW; Ernst, C; Campeau, PM; - view fewer (2018) A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay. Genetics in Medicine 10.1038/s41436-018-0290-3 . (In press).

https://ift.tt/2QGnoBd