نتایج جستجو برای: autosomal recessive non

تعداد نتایج: 1353235  

Journal: :Investigative Opthalmology & Visual Science 2015

Journal: :Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 2019

Journal: :Indian Journal of Child Health 2021

Journal: :European Journal of Human Genetics 2009

Journal: :Journal of Neuropathology & Experimental Neurology 2005

2011
Rizwana Kousar Muhammad Jawad Hassan Bushra Khan Sulman Basit Saqib Mahmood Asif Mir Wasim Ahmad Muhammad Ansar

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 consang...

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