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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Autors principals:	Ahoura Nozari, Ehsan Aghaei-Moghadam, Aliakbar Zeinaloo, Afagh Alavi, Saghar Ghasemi Firouzabad, Shohre Minaee, Marzeieh Eskandari Hesari, Farkhondeh Behjati
Format:	Artigo
Idioma:	Inglês
Publicat:	Royan Institute (ACECR), Tehran 2018-12-01
Col·lecció:	Cell Journal
Matèries:	Pleckstrin Homology Domain RASA1 Tricuspid Atresia Whole Exome Sequencing
Accés en línia:	https://celljournal.org/journal/article/abstract/5734
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