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Article

MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease.

European journal of medical genetics - 1 Oct 2021

Khuller Katharina, Yigit Gökhan, Martínez Grijalva Carolina, Altmüller Janine, Thiele Holger, Nürnberg Peter, Elcioglu Nursel H, Yeter Burcu, Hehr Ute, Stein Anja, Della Marina Adela, Köninger Angela, Depienne Christel, Kaiser Frank J, Wollnik Bernd, Kuechler Alma

Abstract excerpt

MFSD2A, a member of the major facilitator superfamily (MFS), is a transmembrane transporter responsible for the uptake of specific essential fatty acids through the blood-brain barrier (BBB) to the brain. The transporter is crucial for early embryonic brain development and a major factor in the formation and maintenance of the BBB. Mfsd2a-knockout mice show a leakage of the BBB in early embryonic stages and...

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Identifiers

PMID: 34400370
DOI: 10.1016/j.ejmg.2021.104310

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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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