Article

Identification of a Novel Compound Heterozygous Mutation of PHGDH in Neu–Laxova Syndrome

2022-05-31

Abstract excerpt

<h4>Background: </h4> Neu–Laxova syndrome (NLS) is an autosomal recessive genetic disease characterized by a variety of congenital malformations. It is a fatal developmental disorder caused by homozygous or compound heterozygous mutations in PHGDH , PSAT1 , and PSPH . Method In this study, we aimed to characterize the clinical and molecular features of a fetus with NLS caused by novel heterozygous missense varian...

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Literature Corpus work: 7ecd2e8d-1384-51d5-9ef6-35089b48f2cd
DOI: 10.21203/rs.3.rs-1685034/v1

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