A novel HRAS c.466C>T p.(Phe156Leu) variant in two patients with attenuated features of Costello syndrome

Costello syndrome (CS) is caused by heterozygous HRAS germline mutations. Most patients share the HRAS variant p.Gly12Ser that is associated with a typical, homogeneous phenotype. Rarer pathogenic HRAS variants (e.g., p.Thr56Ile) were identified in individuals with attenuated CS phenotypes. The obvi...

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Detalles Bibliográficos
Autores principales: Lindsey-Temple, Suzanna, Edwards, Matt, Rickassel, Verena, Nauth, Theresa, Rosenberger, Georg
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437031/
https://www.ncbi.nlm.nih.gov/pubmed/35764878
http://dx.doi.org/10.1038/s41431-022-01139-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9437031/
https://www.ncbi.nlm.nih.gov/pubmed/35764878
http://dx.doi.org/10.1038/s41431-022-01139-1

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