A missense mutation in DCDC2 causes human recessive deafness DFNB66, likely by interfering with sensory hair cell and supporting cell cilia length regulation.

Autor: Grati, M'hamed, Chakchouk, Imen, Qi Ma, Bensaid, Mariem, Desmidt, Alexandra, Turki, Nouha, Yan, Denise, Baanannou, Aissette, Mittal, Rahul, Driss, Nabil, Blanton, Susan, Farooq, Amjad, Zhongmin Lu, Xue Zhong Liu, Masmoudi, Saber
Zdroj: Human Molecular Genetics; May2015, Vol. 24 Issue 9, p2482-2491, 10p
Databáze: Complementary Index