Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.

  title={Identification of de novo mutations and rare variants in hypoplastic left heart syndrome.},
  author={Maria Iascone and Roberto Ciccone and Livia Galletti and Daniela Marchetti and Francesco Seddio and Anna Rita Lincesso and Laura Pezzoli and Annalisa Vetro and D Barachetti and Luca Boni and Duccio Federici and Ana M. Soto and Juan Valent{\'i}n Comas and Paolo Ferrazzi and Orsetta Zuffardi},
  journal={Clinical genetics},
  volume={81 6},
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 53 well-characterized patients with isolated HLHS using an integrated genomic… CONTINUE READING


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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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