A Pathogenic Homozygous Mutation in The Pleckstrin Homology Domain of RASA1 Is Responsible for Familial Tricuspid Atresia in An Iranian Consanguineous Family

OBJECTIVE: Tricuspid atresia (TA) is a rare life-threatening form of congenital heart defect (CHD). The genetic mechanisms underlying TA are not clearly understood. According to previous studies, the endocardial cushioning event, as the primary sign of cardiac valvulogenesis, is governed by several...

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Detalles Bibliográficos
Autores principales: Nozari, Ahoura, Aghaei-Moghadam, Ehsan, Zeinaloo, Aliakbar, Alavi, Afagh, Ghasemi Firouzabdi, Saghar, Minaee, Shohre, Eskandari Hesari, Marzieh, Behjati, Farkhondeh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Royan Institute 2019
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6275424/
https://www.ncbi.nlm.nih.gov/pubmed/30507091
http://dx.doi.org/10.22074/cellj.2019.5734

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