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Article

Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family.

European journal of medical genetics - 1 Dec 2020

Razmara Ehsan, Azimi Homeyra, Tavasoli Ali Reza, Fallahi Elnaz, Sheida Sadaf Valeh, Eidi Milad, Bitaraf Amirreza, Farjami Zahra, Daneshmand Mohammad Ali, Garshasbi Masoud

Abstract excerpt

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 activity of this transporter in brain endothelial cells and can lead to microcephaly. In this study, we describe an 11-year-old male who is affected by autosomal recessive...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33186761
DOI: 10.1016/j.ejmg.2020.104096

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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