Birth defects researchAdultFemaleHumansPregnancyExome Sequencing
A Case of a Fetus With SETD5 Mutation: Prenatal Phenotype and Literature Review.
Jiaqi Fan, Hairui Sun, Huan Jiang, Siyao Zhang, Hongmei Xia, Yihua He
Published: 202510.1002/bdr2.70003
Abstract
BACKGROUND: Pathogenic variants in the SETD5 gene cause autosomal dominant intellectual developmental disorder 23. The limited number of published clinical case reports has hindered a comprehensive understanding of the associated phenotypic spectrum…
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