Novel Splicing Variant in the PMM2 Gene in a Patient With PMM2-CDG Syndrome Presenting With Pericardial Effusion: A Case Report

Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases with the phosphomannomutase 2 (PMM2)-CDG being the most common form of CDG. Most of these monogenic diseases are autosomal recessive and have multi-systemic manifestations, mainly psychomotor retardation, fa...

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Detalles Bibliográficos
Autores principales: Slaba, Katerina, Noskova, Hana, Vesela, Petra, Tuckova, Jana, Jicinska, Hana, Honzik, Tomas, Hansikova, Hana, Kleiblova, Petra, Stourac, Petr, Jabandziev, Petr, Slaby, Ondrej, Prochazkova, Dagmar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7575812/
https://www.ncbi.nlm.nih.gov/pubmed/33133147
http://dx.doi.org/10.3389/fgene.2020.561054

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