A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo <i>PUF60</i> Variant.

ABSTRACT: This case illustrates how trio-based exome sequencing can uncover de novo Poly-U-binding splicing factor 60-KD (PUF60) gene variants responsible for Verheij syndrome (VRJS) in utero, even in the absence of classic features such as growth restriction. Our findings broaden the prenatal phenotype and underscore the role of advanced genomic tools in evaluating polymalformative syndromes.

SUBMITTER: Mio C 

PROVIDER: S-EPMC12527814 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature