Article

A novel homozygous GINS2 variant with Meier–Gorlin syndrome with clinical and epigenetic characterisation

2026-07-02

Abstract excerpt

<title>Abstract</title> <p> <bold>Background:</bold> Meier-Gorlin syndrome (MGS) is a rare disorder of DNA replication characterised by pre- and postnatal growth retardation, microcephaly, patellar hypoplasia, and microtia. Pathogenic variants in genes encoding components of the pre-replication and CMG helicase complexes cause MGS, with emerging genotype–phenotype correlations. To date, only one individual with...

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Literature Corpus work: 878cae91-a866-5a05-bacc-fe4c17fea34f
DOI: 10.21203/rs.3.rs-10021405/v1

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