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Article

First report of tethered cord syndrome in a patient with Verheij syndrome.

Ophthalmic genetics - 1 Aug 2023

Kocaaga A, Yimenicioglu S, Atikel Y Özdemir, Yavuz O Özkale

Abstract excerpt

BACKGROUND: Verheij syndrome (VRJS) is a rare microdeletion syndrome of chromosome 8q24.3 that is characterized by severe growth retardation, microcephaly, vertebral anomalies, joint laxity/dislocation, psychomotor retardation, cardiac and renal defects, and dysmorphic facial features. Pathogenic variants of PUF60 (Poly-U Binding Splicing Factor 60 kDa) have been found to cause VRJS. Here we present a Turkish...

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Identifiers

PMID: 36134573
DOI: 10.1080/13816810.2022.2121968

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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First report of tethered cord syndrome in a patient with Verheij syndrome.PMID 36134573Read ↗

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Novel PUF60 variant suggesting an interaction between Verheij and Cornelia de Lange syndrome: phenotype description and review of the literature.Semantic proximity Read ↗

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