Nonsyndromic X-linked intellectual deficiency in three brothers with a novel MED12 missense mutation [c.5922G>T (p.Glu1974His)].

Autor: Bouazzi, Habib1, Lesca, Gaetan2, Trujillo, Carlos3, Alwasiyah, Mohammad Khalid4, Munnich, Arnold5
Zdroj: Clinical Case Reports. Jul2015, Vol. 3 Issue 7, p604-609. 6p.
Databáze: Academic Search Ultimate