Hutchinson–Gilford Progeria Syndrome: Clinical and Molecular Characterization

Hutchinson–Gilford progeria syndrome (HGPS) is a rare congenital disease caused by mutations in the LMNA gene. Children with HGPS are phenotypically characterized by lipodystrophy, short height, low body weight, scleroderma, reduced joint mobility, osteolysis, senile facial features, and cardiovascu...

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Detalles Bibliográficos
Autores principales: Pachajoa, Harry, Claros-Hulbert, Angelica, García-Quintero, Ximena, Perafan, Lina, Ramirez, Andres, Zea-Vera, Andres F
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Dove 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7481268/
https://www.ncbi.nlm.nih.gov/pubmed/32943904
http://dx.doi.org/10.2147/TACG.S238715

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