Infantile cerebral and cerebellar atrophy is associated with a mutation in the MED17 subunit of the transcription preinitiation mediator complex

Rami Kaufmann, Rachel Straussberg, Hanna Mandel, Aviva Fattal-Valevski, Bruria Ben-Zeev, Adi Naamati, Avraham Shaag, Shamir Zenvirt, Osnat Konen, Aviva Mimouni-Bloch, William B. Dobyns, Simon Edvardson, Ophry Pines, Orly Elpeleg

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Medicine & Life Sciences