Publication
A new microdeletion syndrome involving TBC1D24, ATP6V0C, and PDPK1 causes epilepsy, microcephaly, and developmental delay
Bettina E. Mucha, Siddhart 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, September 2018, Springer Science + Business Media
DOI: 10.1038/s41436-018-0290-3