Whole exome sequencing identifies a novel mutation in ASPM and ultra-rare mutation in CDK5RAP2 causing Primary microcephaly in consanguineous Pakistani families

BACKGROUND & OBJECTIVES: Primary Microcephaly (MCPH) is a rare neurogenetic disease, manifesting congenitally reduced head circumference and non-progressive intellectual disability (ID). To date, twenty-eight genes with biallelic mutations have been reported for this disorder. The study aimed fo...

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Detalles Bibliográficos
Autores principales: Makhdoom, Ehtisham ul Haq, Anwar, Haseeb, Baig, Shahid Mahmood, Hussain, Ghulam
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Professional Medical Publications 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713189/
https://www.ncbi.nlm.nih.gov/pubmed/35035405
http://dx.doi.org/10.12669/pjms.38.1.4464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8713189/
https://www.ncbi.nlm.nih.gov/pubmed/35035405
http://dx.doi.org/10.12669/pjms.38.1.4464

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