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Article

Identification of a novel de novo PUF60 variant causing Verheij syndrome in a fetus.

Gene - 1 Mar 2024

Miao Mingzhu, Wang Jue, Guo Chenyan, Su Xiaotian, Sun Lizhou, Lu Shoulian

Abstract excerpt

Verheij syndrome (VRJS) is a craniofacial spliceosomopathy with a wide phenotypic spectrum. Haploinsufficiency of the poly-uridine binding splicing factor 60 gene (PUF60) and its loss-of-function (LOF) variants are involved in VRJS. We evaluated a human fetus with congenital heart defects and preaxial polydactyly. Clinical data were obtained from the medical record. Whole-exome sequencing (WES) was used to...

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Identifiers

PMID: 38110042
DOI: 10.1016/j.gene.2023.148092

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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