A carregar...

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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Pak J Med Sci
Main Authors: Naseer, Muhammad Imran, Rasool, Mahmood, Abdulkareem, Angham Abdulrahman, Chaudhary, Adeel G., Zaidi, Syed Kashif, Al-Qahtani, Mohammad H.
Formato: Artigo
Idioma:Inglês
Publicado em: Professional Medical Publications 2019
Assuntos:
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!