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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
Publication

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

Nature Genetics, 2015
Vafa Alakbarzade1, Abdul Hameed, Debra Q Y Quek, Barry A Chioza, Emma L Baple, Amaury Cazenave-Gassiot, Long N Nguyen, Markus R Wenk, Arshia Q Ahmad, Ajith Sreekantan-Nair, Michael N Weedon, Phil Rich, Michael A Patton, Thomas T Warner, David L Silver & Andrew H Crosby
PubMed: 26005865
DOI: 10.1038/ng.3313
Blood Brain Barrier, Microcephaly