Article
Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.
Clinical genetics - 1 Jun 2012
Iascone M, Ciccone R, Galletti L, Marchetti D, Seddio F, Lincesso A R, Pezzoli L, Vetro A, Barachetti D, Boni L, Federici D, Soto A M, Comas J V, Ferrazzi P, Zuffardi O
Abstract excerpt
Hypoplastic left heart syndrome (HLHS) is one of the most severe congenital heart malformations, characterized by underdevelopment of the structures in the left heart-aorta complex. The majority of cases are sporadic. Although multiple genetic loci have been tentatively implicated in HLHS, no gene or pathway seems to be specifically associated with the disease. To elucidate the genetic basis of HLHS, we analyzed...
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