Biallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.

TitleBiallelic Mutations in TMTC3, Encoding a Transmembrane and TPR-Containing Protein, Lead to Cobblestone Lissencephaly.
Publication TypeJournal Article
AuthorsJerber, J, Zaki, MS, Al-Aama, JY, Rosti, ROzgur, Ben-Omran, T, Dikoglu, E, Silhavy, JL, Caglar, C, Musaev, D, Albrecht, B, Campbell, KP, Willer, T, Almuriekhi, M, Çağlayan, AOkay, Vajsar, J, Bilguvar, K, Ogur, G, Jamra, RAbou, Günel, M, Gleeson, JG
PubMed ID27773428
PubMed Central IDPMC5097947
Grant ListUM1 HG008900 / HG / NHGRI NIH HHS / United States
R01 GM077243 / GM / NIGMS NIH HHS / United States
U54 HG003067 / HG / NHGRI NIH HHS / United States
UL1 TR001863 / TR / NCATS NIH HHS / United States
U54 NS053672 / NS / NINDS NIH HHS / United States
R01 NS041537 / NS / NINDS NIH HHS / United States
R01 NS048453 / NS / NINDS NIH HHS / United States
U54 HG006504 / HG / NHGRI NIH HHS / United States
R01 NS052455 / NS / NINDS NIH HHS / United States
P01 HD070494 / HD / NICHD NIH HHS / United States