Autosomal Recessive Primary Microcephaly
What's New
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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Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2023
- Page last updated:Apr 01, 2023
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