A Pathogenic Homozygous Mutation In The Pleckstrin Homology Domain Of RASA1 Is Responsible For Familial Tricuspid Atresia In An Iranian Consanguineous Family

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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Bibliographic Details
Main Authors: Ahoura Nozari, Ehsan Aghaei-Moghadam, Aliakbar Zeinaloo, Afagh Alavi, Saghar Ghasemi Firouzabad, Shohre Minaee, Marzeieh Eskandari Hesari, Farkhondeh Behjati
Format: Article
Language:English
Published: Royan Institute (ACECR), Tehran 2018-12-01
Series:Cell Journal
Subjects:
Pleckstrin Homology Domain
RASA1
Tricuspid Atresia
Whole Exome Sequencing
Online Access:https://celljournal.org/journal/article/abstract/5734

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