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

Connect with other users with Postnatal progressive microcephaly, seizures, and brain atrophy on the RareGuru app

Do you have information about a disease, disorder, or syndrome? Want to suggest a symptom?
Please send suggestions to RareGuru!

The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

People Using the App

Join the RareGuru Community

To connect, share, empower and heal today.

People Using the App