An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autoso...
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
About this item
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Author / Creator
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 and Hussain, Muhammad Sajid
Publisher
Bognor Regis: John Wiley & Sons, Inc
Journal title
Language
English
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Publication information
Publisher
Bognor Regis: John Wiley & Sons, Inc
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More information
Scope and Contents
Contents
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...
Alternative Titles
Full title
An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 underlying autosomal recessive primary microcephaly in 32 consanguineous families from Pakistan
Authors, Artists and Contributors
Author / Creator
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
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_86efdf4d011a4c569530b984fe472c83
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_86efdf4d011a4c569530b984fe472c83
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.1408
