A Homozygous AKNA Frameshift Variant Is Associated with Microcephaly in a Pakistani Family

Primary microcephaly (MCPH) is a prenatal condition of small brain size with a varying degree of intellectual disability. It is a heterogeneous genetic disorder with 28 associated genes reported so far. Most of these genes encode centrosomal proteins. Recently, AKNA was recognized as a novel centros...

Descripción completa

Detalles Bibliográficos
Autores principales: Waseem, Syeda Seema, Moawia, Abubakar, Budde, Birgit, Tariq, Muhammad, Khan, Ayaz, Ali, Zafar, Khan, Sheraz, Iqbal, Maria, Malik, Naveed Altaf, Haque, Saif ul, Altmüller, Janine, Thiele, Holger, Hussain, Muhammad Sajid, Cirak, Sebahattin, Baig, Shahid Mahmood, Nürnberg, Peter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535656/
https://www.ncbi.nlm.nih.gov/pubmed/34680889
http://dx.doi.org/10.3390/genes12101494

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8535656/
https://www.ncbi.nlm.nih.gov/pubmed/34680889
http://dx.doi.org/10.3390/genes12101494

Ejemplares similares