Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.
Nabais Sá MJ, Miller KA, McQuaid M, Koelling N, Wilkie AOM, Wurtele H, de Brouwer APM, Oliveira J.
Nabais Sá MJ, et al.
J Med Genet. 2022 Aug;59(8):776-780. doi: 10.1136/jmedgenet-2020-107572. Epub 2021 Aug 5.
J Med Genet. 2022.
PMID: 34353863
Free PMC article.
RESULTS: A novel homozygous missense variant NM_016095.2:c.341G>T, p.(Arg114Leu), in GINS2 was identified. Both non-consanguineous healthy parents carried this variant. ...Interestingly, our patient's phenotype is strikingly similar to the phenotype of patients with CDC …
RESULTS: A novel homozygous missense variant NM_016095.2:c.341G>T, p.(Arg114Leu), in GINS2 was identified. Both non-consanguineous …