Identification of Pathogenic Mutations in Primary Microcephaly- (MCPH-) Related Three Genes CENPJ, CASK, and MCPH1 in Consanguineous Pakistani Families

Microcephaly (MCPH) is a developmental anomaly of the brain known by reduced cerebral cortex and underdeveloped intellectual disability without additional clinical symptoms. It is a genetically and clinically heterogenous disorder. Twenty-five genes (involved in spindle positioning, Wnt signaling, c...

Descripción completa

Detalles Bibliográficos
Autores principales: Khan, Niaz Muhammad, Masoud, Muhammad Shareef, Baig, Shahid Mahmood, Qasim, Muhammad, Chang, Junlei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913137/
https://www.ncbi.nlm.nih.gov/pubmed/35281599
http://dx.doi.org/10.1155/2022/3769948

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8913137/
https://www.ncbi.nlm.nih.gov/pubmed/35281599
http://dx.doi.org/10.1155/2022/3769948

Ejemplares similares