Autosomal Recessive Primary Microcephaly
Last Posted: Mar 09, 2023
- Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.
Tahira Batool et al. Journal of human genetics 2023
- Updates on Clinical and Genetic Heterogeneity of ASPM in 12 Autosomal Recessive Primary Microcephaly Families in Pakistani Population.
Khan Niaz Muhammad, et al. Frontiers in pediatrics 2021 0 695133
- Genetic heterogeneity in Pakistani microcephaly families revisited.
Ahmad I et al. Clinical genetics 2017 Jul 92(1) 62-68
- Biallelic Mutations in Citron Kinase Link Mitotic Cytokinesis to Human Primary Microcephaly.
Li Hongda, et al. American journal of human genetics 2016 8 0. (2) 501-10
- Molecular genetics of human primary microcephaly: an overview.
Faheem Muhammad, et al. BMC medical genomics 2015 0 0. S4
- Autosomal recessive primary microcephaly
From NCATS Genetic and Rare Diseases Information Center
- The c.940G variant of the Microcephalin (MCPH1) gene is not associated with microcephaly or mental retardation.
Maghirang-Rodriguez Reycel, et al. American journal of medical genetics. Part A 2009 2 (4) 622-5
- Investigation of MCPH1 G37995C and ASPM A44871G polymorphisms and brain size in a healthy cohort.
Dobson-Stone C, et al. NeuroImage 2007 8 (2) 394-400
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- Page last reviewed:Feb 1, 2023
- Page last updated:Apr 01, 2023
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