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