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

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

Whole-exome sequencing reveals a recurrent mutation in the cathepsin C gene that causes Papillon–Lefevre syndrome in a Saudi family

por Alkhiary, Yaser Mohammad, Jelani, Musharraf, Almramhi, Mona Mohammad, Mohamoud, Hussein Sheikh Ali, Al-Rehaili, Rayan, Al-Zahrani, Hams Saeed, Serafi, Rehab, Yang, Huanming, Al-Aama, Jumana Yousuf
Publicado 2016