A mutation in the major autophagy gene, WIPI2, associated with global developmental abnormalities

We describe a large consanguineous pedigree from a remote area of Northern Pakistan, with a complex developmental disorder associated with wide-ranging symptoms, including mental retardation, speech and language impairment and other neurological, psychiatric, skeletal and cardiac abnormalities. We i...

Descripción completa

Detalles Bibliográficos
Autores principales: Jelani, Musharraf, Dooley, Hannah C., Gubas, Andrea, Mohamoud, Hussein Sheikh Ali, Khan, Muhammad Tariq Masood, Ali, Zahir, Kang, Changsoo, Rahim, Fazal, Jan, Amin, Vadgama, Nirmal, Khan, Muhammad Ismail, Al-Aama, Jumana Yousuf, Khan, Asifullah, Tooze, Sharon A, Nasir, Jamal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487338/
https://www.ncbi.nlm.nih.gov/pubmed/30968111
http://dx.doi.org/10.1093/brain/awz075

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6487338/
https://www.ncbi.nlm.nih.gov/pubmed/30968111
http://dx.doi.org/10.1093/brain/awz075

Ejemplares similares