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Case Report: Novel Biallelic Null Variants of SMPD4 Confirm Its Involvement in Neurodevelopmental Disorder With

Weigang Ji1, Xiangtian Kong2, Honggang Yin3

  • 1Department of Pediatrics, Affiliated Matern & Child Care Hospital of Nantong University, Nantong, China.

Frontiers in Genetics
|June 2, 2022
PubMed

Keywords:
SMPD4arthrogryposisearly deathmicrocephalyneurodevelopmental disorder (NDD)null variantsstructural brain anomalies

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