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1 Ergebnisse
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Case Report: Novel Biallelic Null Variants of SMPD4 Confirm..:
Weigang Ji
;
Xiangtian Kong
;
Honggang Yin
..
https://www.frontiersin.org/articles/10.3389/fgene.2022.872264/full. , 2022
Link:
https://doi.org/10.3389/fgene.2022.872264
RT Journal T1 <Title>Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, and Structural Brain Anomalies</Title> UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:ffbc18e5cecd45f588f10c13f39da081&Exemplar=1&LAN=DE A1 Weigang Ji A1 Xiangtian Kong A1 Honggang Yin A1 Jian Xu A1 Xueqian Wang PB Frontiers Media S.A. YR 2022 K1 SMPD4 K1 neurodevelopmental disorder (NDD) K1 null variants K1 microcephaly K1 structural brain anomalies K1 arthrogryposis K1 Genetics K1 QH426-470 JF https://www.frontiersin.org/articles/10.3389/fgene.2022.872264/full LK http://dx.doi.org/https://doi.org/10.3389/fgene.2022.872264 DO https://doi.org/10.3389/fgene.2022.872264 SF ELIB - SuUB Bremen
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