Article
Functional studies in yeast confirm the pathogenicity of a new GINS3 Meier-Gorlin syndrome variant.
Clinical genetics - 1 Sept 2024
Mehrjoo Yosra, Campeau Philippe M, Al Abdi Lama, Aldowaish Abdullah, Abouyousef Omar, Alkuraya Fowzan S, Codina-Solà Marta, Cueto-González Anna M, Wurtele Hugo
Abstract excerpt
Meier-Gorlin syndrome (MGORS) is an autosomal recessive disorder characterized by short stature, microtia, and patellar hypoplasia, and is caused by pathogenic variants of cellular factors involved in the initiation of DNA replication. We previously reported that biallelic variants in GINS3 leading to amino acid changes at position 24 (p.Asp24) cause MGORS. Here, we describe the phenotype of a new individual...
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