article_metadata: Weigang Ji Xiangtian Kong Honggang Yin Jian Xu Xueqian Wang
article_metadata: 10.3389/fgene.2022.872264
article_metadata: Front Genet
article_metadata: 2022 May 16;13:872264.
article_metadata: smpd4 arthrogryposis early death microcephaly neurodevelopmental disorder (ndd) null variants structural brain anomalies
article_metadata: CC BY
article_metadata: https://pubmed.ncbi.nlm.nih.gov/35651939/
article_metadata: Case Reports
article_metadata: PMC9149365
article_metadata: 35651939
article_metadata: Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies
article_metadata: 2022