Open access
Aug 2026
A familial case of Noonan syndrome with multiple lentigines caused by a PTPN11 gene mutation: a case report
Determination of NSML in the proband was difficult due to a decrease in the severity of external signs with age and poor awareness among cardiologists of the external syndrome manifestations, and the variability of cardiac pathology within families.
G. Golovina, A. S. Tochenaya, Z. Tatarintseva et al.
· Russian Journal of Cardiolog... · 0 citations