Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

doi:10.1155/2024/8813121

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Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDG.

Human mutation - 1 Jan 2024

Pajusalu Sander, Vals Mari-Anne, Serrano Mercedes, Witters Peter, Cechova Anna, Honzik Tomáš, Edmondson Andrew C, Ficicioglu Can, Barone Rita, De Lonlay Pascale, Bérat Claire-Marine, Vuillaumier-Barrot Sandrine, Lam Christina, Patterson Marc C, Janssen Mirian C H, Martins Esmeralda, Quelhas Dulce, Sykut-Cegielska Jolanta, Mousa Jehan, Urreizti Roser, McWilliams Peter, Vernhes Frederique, Plotkin Horacio, Morava Eva, Õunap Katrin

Abstract excerpt

We report on the largest single dataset of patients with PMM2-CDG enrolled in an ongoing international, multicenter natural history study collecting genetic, clinical, and biological information to evaluate similarities with previous studies, report on novel findings, and, additionally, examine potential genotype/phenotype correlations. A total of 137 participants had complete genotype information, representing...

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PMID: 40225925
DOI: 10.1155/2024/8813121
PMCID: PMC11922042

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