A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

A novel splice-site mutation in the ASPM gene underlies autosomal recessive primary microcephaly

BACKGROUND: Autosomal recessive primary microcephaly (MCPH) is a clinically and genetically heterogeneous disorder. Patients with MCPH exhibit reduced occipito-frontal head circumference and non-progressive intellectual disability. To date, 17 genes have been known as an underlying cause of MCPH in...

Full description

Bibliographic Details
Main Authors: Jamil A. Hashmi, Khalid M. Al-Harbi, Khushnooda Ramzan, Alia M. Albalawi, Amir Mehmood, Mohammed I. Samman, Sulman Basit
Format: Article
Language:English
Published: King Faisal Specialist Hospital and Research Centre 2016-11-01
Series:Annals of Saudi Medicine
Online Access:https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2016.391

Internet

https://www.annsaudimed.net/doi/full/10.5144/0256-4947.2016.391

Similar Items