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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Detalles Bibliográficos
Autores principales: Chan, Chon-Hou, Chu, Man-Fong, Lam, U-Po, Mok, Toi-Meng, Tam, Weng-Chio, Tomlinson, Brian, Coelho, Ricardo, Évora, Màrio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Cardiovascular Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10484218/
https://www.ncbi.nlm.nih.gov/pubmed/37692036
http://dx.doi.org/10.3389/fcvm.2023.1225667

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