Mutations inTAX1BP3Cause Dilated Cardiomyopathy with Septo-Optic Dysplasia
Work
Year: 2015
Type: article
Abstract: We describe a Bedouin family with a novel autosomal recessive syndrome characterized by dilated cardiomyopathy and septo-optic dysplasia. Genetic analysis revealed a homozygous missense mutation in TA... more
Source: Human Mutation
Authors Eyal Reinstein, Katia Orvin, Einav Tayeb-Fligelman, Hadas Stiebel‐Kalish, Shay Tzur +10 more
Institutions Tel Aviv University, Rabin Medical Center, Rafael Advanced Defense Systems (Israel), Technion – Israel Institute of Technology, Rambam Health Care Campus
Cites: 23
Cited by: 28
Related to: 10
FWCI: 2.15
Citation percentile (by year/subfield): 78.84
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
APC paid (est): $2,300