Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family

Case report: Distinctive cardiac features and phenotypic characteristics of Noonan syndrome with multiple lentigines among three generations in one family

Noonan syndrome with multiple lentigines (NSML, formerly known as LEOPARD syndrome) is a variant of Noonan syndrome which is an autosomal dominant disorder. Most cases of NSML are secondary to mutations of the protein-tyrosine phosphatase nonreceptor type 11 (PTPN11). Hypertrophic cardiomyopathy (HC...

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Bibliographic Details
Main Authors: Chon-Hou Chan, Man-Fong Chu, U-Po Lam, Toi-Meng Mok, Weng-Chio Tam, Brian Tomlinson, Ricardo Coelho, Màrio Évora
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-08-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
hypertrophic cardiomyopathy
Noonan syndrome with multiple lentigines
inherited disorder
sudden cardiac death
echocardiography
Online Access:https://www.frontiersin.org/articles/10.3389/fcvm.2023.1225667/full

Internet

https://www.frontiersin.org/articles/10.3389/fcvm.2023.1225667/full

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