A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features

por Hussein Sheikh Mohamoud, Saleem Ahmed, Musharraf Jelani, Nuha Alrayes, Kay Childs, Nirmal Vadgama, Mona Mohammad Almramhi, Jumana Yousuf Al-Aama, Steve Goodbourn, Jamal Nasir
Publicado 2018

Biallelic inheritance in a single Pakistani family with intellectual disability implicates new candidate gene RDH14

por Stephen F. Pastore, Tahir Muhammad, Ricardo Harripaul, Rebecca Lau, Muhammad Tariq Masood Khan, Muhammad Ismail Khan, Omar Islam, Changsoo Kang, Muhammad Ayub, Musharraf Jelani, John B. Vincent
Publicado 2021