Hypertrophic cardiomyopathy in an adult patient with Noonan syndrome with multiple lentigines

Noonan syndrome with multiple lentigines (NSML) is a rare RASopathy caused by pathogenic variants (PV) predominantly in PTPN11 gene. We report a 54‐year‐old male with apical hypertrophic cardiomyopathy, who was diagnosed with NSML due to his short stature, multiple lentigines, winged neck, pectus ex...

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Detalles Bibliográficos
Autores principales: Rivero‐García, Pamela, Campuzano‐Estrada, Isabel del Carmen, Hernandez‐Felix, Jorge Humberto
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290193/
https://www.ncbi.nlm.nih.gov/pubmed/37361648
http://dx.doi.org/10.1002/ccr3.7607

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10290193/
https://www.ncbi.nlm.nih.gov/pubmed/37361648
http://dx.doi.org/10.1002/ccr3.7607

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