Previously described sequence variant in CDK5RAP2 gene in a Pakistani family with autosomal recessive primary microcephaly

BACKGROUND: Autosomal Recessive Primary Microcephaly (MCPH) is a disorder of neurogenic mitosis. MCPH leads to reduced cerebral cortical volume and hence, reduced head circumference associated with mental retardation of variable degree. Genetic heterogeneity is well documented in patients with MCPH...

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Autores principales: Hassan, Muhammad Jawad, Khurshid, Maryam, Azeem, Zahid, John, Peter, Ali, Ghazanfar, Chishti, Muhammad Salman, Ahmad, Wasim
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2007
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC2072945/
https://ncbi.nlm.nih.gov/pubmed/17764569
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-8-58
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