Cargando…
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...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2023
|
| Materias: | |
| 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 |