Maternally Inherited Birk Barel Mental Retardation Dysmorphism Syndrome Caused by a Mutation in the Genomically Imprinted Potassium Channel KCNK9

Autor: Barel, Ortal, Shalev, Stavit A., Ofir, Rivka, Cohen, Asi, Zlotogora, Joel, Shorer, Zamir, Mazor, Galia, Finer, Gal, Khateeb, Shareef, Zilberberg, Noam, Birk, Ohad S.
Zdroj: In The American Journal of Human Genetics 8 August 2008 83(2):193-199
Databáze: ScienceDirect