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About 90 results

ALLMedicine™ Autosomal Recessive Primary Microcephaly Center

Research & Reviews  36 results

Homozygous mutation in MCM7 causes autosomal recessive primary microcephaly and intelle...
https://doi.org/10.1136/jmedgenet-2020-107518
Journal of Medical Genetics; Ravindran E, Gutierrez de Velazco C et. al.

Jun 1st, 2021 - Minichromosomal maintenance (MCM) complex components 2, 4, 5 and 6 have been linked to human disease with phenotypes including microcephaly and intellectual disability. The MCM complex has DNA helicase activity and is thereby important for the ini...

Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consan...
https://doi.org/10.1016/j.ejmg.2020.104096
European Journal of Medical Genetics; Razmara E, Azimi H et. al.

Nov 13th, 2020 - Major facilitator superfamily domain-containing 2A (MFSD2A) is required for brain uptake of Docosahexaenoic acid and Lysophosphatidylcholine, both are essential for the normal neural development and function. Mutations in MFSD2A dysregulate the ac...

An update of pathogenic variants in ASPM, WDR62, CDK5RAP2, STIL, CENPJ, and CEP135 unde...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7507472
Molecular Genetics & Genomic Medicine; Rasool S, Baig JM et. al.

Jul 17th, 2020 - 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 mo...

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay,...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7576150
European Journal of Human Genetics : EJHG; Scala M, Chua GL et. al.

Jun 23rd, 2020 - Major Facilitator Superfamily Domain containing 2a (MFSD2A) is an essential endothelial lipid transporter at the blood-brain barrier. Biallelic variants affecting function in MFSD2A cause autosomal recessive primary microcephaly 15 (MCPH15, OMIM# ...

A truncating Aspm allele leads to a complex cognitive phenotype and region-specific red...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7026184
Translational Psychiatry; Garrett L, Chang YJ et. al.

Feb 18th, 2020 - Neurodevelopmental disorders are heterogeneous and identifying shared genetic aetiologies and converging signalling pathways affected could improve disease diagnosis and treatment. Truncating mutations of the abnormal spindle-like microcephaly ass...

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