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Publication

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

Springer Nature, July 2018

Tamar Harel & Debra Q. Y. Quek & Bernice H. Wong & Amaury Cazenave-Gassiot & Markus R. Wenk & Hao Fan & Itai Berger & Dorit Shmueli & Avraham Shaag & David L. Silver & Orly Elpeleg & Shimon Edvardson

PubMed: PubMed: 30043326

DOI: 10.1007/s10048-018-0556-6

Neuroscience, Cognition, Blood Brain Barrier, Microcephaly