1.
Clin Case Rep
; 11(6): e7607, 2023 Jun.
Artículo
en Inglés
| MEDLINE
| ID: mdl-37361648
RESUMEN
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 excavatum, and a heterozygous PV in PTPN11 c.836A > ¡G.