Articles with "variants smpd4" as a keyword



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Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies

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Published in 2022 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2022.872264

Abstract: The SMPD4 gene encodes sphingomyelin phosphodiesterase 4, which preferentially hydrolyzes sphingomyelin over other phospholipids. The biallelic loss-of-function variants of SMPD4 have been identified in a group of children with neurodevelopmental disorder with microcephaly, arthrogryposis, and… read more here.

Keywords: neurodevelopmental disorder; variants smpd4; brain; report ... See more keywords