Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies
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 struc...
| Main Authors: | , , , , |
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| 格式: | 文件 |
| 语言: | English |
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Frontiers Media S.A.
2022-05-01
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| 丛编: | Frontiers in Genetics |
| 主题: | |
| 在线阅读: | https://www.frontiersin.org/articles/10.3389/fgene.2022.872264/full |