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...

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Detalles Bibliográficos
Autores principales: Ji, Weigang, Kong, Xiangtian, Yin, Honggang, Xu, Jian, Wang, Xueqian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149365/
https://www.ncbi.nlm.nih.gov/pubmed/35651939
http://dx.doi.org/10.3389/fgene.2022.872264

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149365/
https://www.ncbi.nlm.nih.gov/pubmed/35651939
http://dx.doi.org/10.3389/fgene.2022.872264

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