Associated Papers
Phosphomannomutase 2 hyperinsulinemia: Recent advances of genetic pathogenesis, diagnosis, and management.
Chen C et al.
Frontiers in Endocrinology, 2022
Non-functional alternative splicing caused by a Latino pathogenic variant in a case of PMM2-CDG.
González-Domínguez CA et al.
Molecular Genetics and Metabolism Reports, 2021
Identification through exome sequencing of the first PMM2-CDG individual of Mexican mestizo origin.
González-Domínguez CA et al.
Molecular Genetics and Metabolism Reports, 2020
Gene variants identified by whole-exome sequencing in 33 French women with premature ovarian insufficiency.
Yang X et al.
Journal of Assisted Reproduction and Genetics, 2019
OVAS: an open-source variant analysis suite with inheritance modelling.
Mozere M et al.
Bmc Bioinformatics, 2018
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Cabezas OR et al.
Journal of the American Society of Nephrology : Jasn, 2017
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
Monin ML et al.
Orphanet Journal of Rare Diseases, 2014
A new insight into PMM2 mutations in the French population.
Le Bizec C et al.
Human Mutation, 2005
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0
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