Article
Liddle Syndrome: Review of the Literature and Description of a New Case.
International journal of molecular sciences - 11 Mar 2018
Tetti Martina, Monticone Silvia, Burrello Jacopo, Matarazzo Patrizia, Veglio Franco, Pasini Barbara, Jeunemaitre Xavier, Mulatero Paolo
Abstract excerpt
Liddle syndrome is an inherited form of low-renin hypertension, transmitted with an autosomal dominant pattern. The molecular basis of Liddle syndrome resides in germline mutations of the SCNN1A, SCNN1B and SCNN1G genes, encoding the α, β, and γ-subunits of the epithelial Na⁺ channel (ENaC), respectively. To date, 31 different causative mutations have been reported in 72 families from four continents. The...
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