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CHUA , Geok Lin

Last name: CHUA

First name: Geok Lin

2020 (v1)

Publication

Metadata-only

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Scala, Marcello Chua, Geok Lin Chin, Cheen Fei

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# 616486). We sought to expand our knowledge of the phenotypic spectrum of MCPH15 and demonstrate the...

Uploaded on: March 27, 2023