Article
The complex genetics of hypoplastic left heart syndrome.
Nature genetics - 1 Jul 2017
Liu Xiaoqin, Yagi Hisato, Saeed Shazina, Bais Abha S, Gabriel George C, Chen Zhaohan, Peterson Kevin A, Li You, Schwartz Molly C, Reynolds William T, Saydmohammed Manush, Gibbs Brian, Wu Yijen, Devine William, Chatterjee Bishwanath, Klena Nikolai T, Kostka Dennis, de Mesy Bentley Karen L, Ganapathiraju Madhavi K, Dexheimer Phillip, Leatherbury Linda, Khalifa Omar, Bhagat Anchit, Zahid Maliha, Pu William, Watkins Simon, Grossfeld Paul, Murray Stephen A, Porter George A, Tsang Michael, Martin Lisa J, Benson D Woodrow, Aronow Bruce J, Lo Cecilia W
Abstract excerpt
Congenital heart disease (CHD) affects up to 1% of live births. Although a genetic etiology is indicated by an increased recurrence risk, sporadic occurrence suggests that CHD genetics is complex. Here, we show that hypoplastic left heart syndrome (HLHS), a severe CHD, is multigenic and genetically heterogeneous. Using mouse forward genetics, we report what is, to our knowledge, the first isolation of HLHS mutant...
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