Article
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan.
Molecular genetics & genomic medicine - 1 Sept 2020
Rasool Sajida, Baig Jamshaid Mahmood, Moawia Abubakar, Ahmad Ilyas, Iqbal Maria, Waseem Syeda Seema, Asif Maria, Abdullah Uzma, Makhdoom Ehtisham Ul Haq, Kaygusuz Emrah, Zakaria Muhammad, Ramzan Shafaq, Haque Saif Ul, Mir Asif, Anjum Iram, Fiaz Mehak, Ali Zafar, Tariq Muhammad, Saba Neelam, Hussain Wajid, Budde Birgit, Irshad Saba, Noegel Angelika Anna, Höning Stefan, Baig Shahid Mahmood, Nürnberg Peter, Hussain Muhammad Sajid
Abstract excerpt
BACKGROUND: Primary microcephaly (MCPH) is a congenital neurodevelopmental disorder manifesting as small brain and intellectual disability. It underlies isolated reduction of the cerebral cortex that is reminiscent of early hominids which makes it suitable model disease to study the hominin-specific volumetric expansion of brain. Mutations in 25 genes have been reported to cause this disorder. Although majority...
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