Article
Mutations in WDR62 gene in Pakistani families with autosomal recessive primary microcephaly.
BMC neurology - 1 Oct 2011
Kousar Rizwana, Hassan Muhammad Jawad, Khan Bushra, Basit Sulman, Mahmood Saqib, Mir Asif, Ahmad Wasim, Ansar Muhammad
Abstract excerpt
BACKGROUND: Autosomal recessive primary microcephaly is a disorder of neurogenic mitosis that causes reduction in brain size. It is a rare heterogeneous condition with seven causative genes reported to date. Mutations in WD repeat protein 62 are associated with autosomal recessive primary microcephaly with cortical malformations. This study was initiated to screen WDR62 mutations in four consanguineous Pakistani...
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