Postnatal progressive microcephaly, seizures, and brain atrophy

Selected Full-Text Journal Articles

Journal article MED17

Kaufmann R, Straussberg R, Mandel H, Fattal-Valevski A, Ben-Zeev B, Naamati A, Shaag A, Zenvirt S, Konen O, Mimouni-Bloch A, Dobyns WB, Edvardson S, Pines O, and Elpeleg O. Infantile Cerebral and Cerebellar Atrophy Is Associated with a Mutation in the MED17 Subunit of the Transcription Preinitiation Mediator Complex. American Journal of Human Genetics. 2010;87(5):667-670.

Last updated on 04-27-20


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