A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations

A Novel Mutation in FOXC1 in a Lebanese Family with Congenital Heart Disease and Anterior Segment Dysgenesis: Potential Roles for NFATC1 and DPT in the Phenotypic Variations

Congenital heart diseases (CHDs) are still the leading cause of death in neonates. Anterior segment dysgenesis is a broad clinical phenotype that affects the normal development of the eye, leading in most of the cases to glaucoma which is still a major cause of blindness for children and adolescents...

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Bibliographic Details
Main Authors: Athar Khalil, Christiane Al-Haddad, Hadla Hariri, Kamel Shibbani, Fadi Bitar, Mazen Kurban, Georges Nemer, Mariam Arabi
Format: Article
Language:English
Published: Frontiers Media S.A. 2017-09-01
Series:Frontiers in Cardiovascular Medicine
Subjects:
anterior segment dysgenesis
congenital heart disease
forkhead box c1
digenic
whole exome sequencing
Online Access:http://journal.frontiersin.org/article/10.3389/fcvm.2017.00058/full

Internet

http://journal.frontiersin.org/article/10.3389/fcvm.2017.00058/full

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