An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan

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...

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Опубликовано в: :Mol Genet Genomic Med
Главные авторы: 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
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2020
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Original Articles
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC7507472/
https://ncbi.nlm.nih.gov/pubmed/32677750
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1408
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