Nalaganje...

Novel compound heterozygous mutations in WDR62 gene leading to developmental delay and Primary Microcephaly in Saudi Family

OBJECTIVE: Primary microcephaly (MCPH) is a rare autosomal recessive disorder characterized by impaired congenital reduction of brain size along with head circumference and intellectual disability. MCPH is a heterogeneous disorder and more than twenty four genes associated with this disease have bee...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Pak J Med Sci
Main Authors: Naseer, Muhammad Imran, Rasool, Mahmood, Abdulkareem, Angham Abdulrahman, Chaudhary, Adeel G., Zaidi, Syed Kashif, Al-Qahtani, Mohammad H.
Format: Artigo
Jezik:Inglês
Izdano: Professional Medical Publications 2019
Teme:
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC6572970/
https://ncbi.nlm.nih.gov/pubmed/31258591
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12669/pjms.35.3.36
Oznake: Označite
Brez oznak, prvi označite!