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