Article
Two heterozygous mutations in NFATC1 in a patient with Tricuspid Atresia.
PloS one - 1 Jan 2012
Abdul-Sater Zahi, Yehya Amin, Beresian Jean, Salem Elie, Kamar Amina, Baydoun Serine, Shibbani Kamel, Soubra Ayman, Bitar Fadi, Nemer Georges
Abstract excerpt
Tricuspid Atresia (TA) is a rare form of congenital heart disease (CHD) with usually poor prognosis in humans. It presents as a complete absence of the right atrio-ventricular connection secured normally by the tricuspid valve. Defects in the tricuspid valve are so far not associated with any genetic locus, although mutations in numerous genes were linked to multiple forms of congenital heart disease. In the last...
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