Costello syndrome with special cutaneous manifestations and HRAS G12D mutation: A case report and literature review

BACKGROUND: Costello syndrome (CS, OMIM 218040) is a rare congenital disorder caused by mutations in HRAS. Previous studies reported that approximately 80% of patients with CS share the same pathogenic variant in HRAS gene in c.34G> A (p.G12S). Here, we report a CS patient with c.34G> A (p.G12...

Descripción completa

Detalles Bibliográficos
Autores principales: Qian, Wen, Zhang, Meijie, Huang, Hequn, Chen, Yihe, Park, Gajin, Zeng, Ni, Li, Yueyue, Lu, Qian, Luo, Dan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222857/
https://www.ncbi.nlm.nih.gov/pubmed/33932139
http://dx.doi.org/10.1002/mgg3.1690

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8222857/
https://www.ncbi.nlm.nih.gov/pubmed/33932139
http://dx.doi.org/10.1002/mgg3.1690

Ejemplares similares