Germline de novo variant F747S extends the phenotypic spectrum of CACNA1D Ca(2+) channelopathies

Germline gain-of-function missense variants in the pore-forming Cav1.3 α1-subunit (CACNA1D gene) confer high risk for a severe neurodevelopmental disorder with or without endocrine symptoms. Here, we report a 4-week-old new-born with the novel de novo missense variant F747S with a so far not describ...

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Detalles Bibliográficos
Autores principales: Török, Ferenc, Tezcan, Kamer, Filippini, Ludovica, Fernández-Quintero, Monica L, Zanetti, Lucia, Liedl, Klaus R, Drexel, Raphaela S, Striessnig, Jörg, Ortner, Nadine J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9941835/
https://www.ncbi.nlm.nih.gov/pubmed/36208199
http://dx.doi.org/10.1093/hmg/ddac248

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