Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly

Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly

RTTN (Rotatin) (OMIM 614833) is a large centrosomal protein coding gene. RTTN mutations are responsible for syndromic forms of malformation of brain development, leading to polymicrogyria, microcephaly, primordial dwarfism, seizure along with many other malformations. In this study we have identifie...

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Bibliographic Details
Main Authors: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Osama Yousef Muthaffar, Adeel G. Chaudhary
Format: Article
Language:English
Published: Elsevier 2021-05-01
Series:Saudi Journal of Biological Sciences
Subjects:
RTTN gene
Brain development
Dwarfism
Microcephaly
Polymicrogyria
Online Access:http://www.sciencedirect.com/science/article/pii/S1319562X21000899

Internet

http://www.sciencedirect.com/science/article/pii/S1319562X21000899

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