Hypoplastic left heart syndrome
Definition:
References:
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[1]. C Dasgupta, et al. Identification of connexin43 (alpha1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res. 2001 Aug 8;479(1-2):173-86. [Content Brief]
[2]. David A Elliott, et al. Cardiac homeobox gene NKX2-5 mutations and congenital heart disease: associations with atrial septal defect and hypoplastic left heart syndrome. J Am Coll Cardiol. 2003 Jun 4;41(11):2072-6. [Content Brief]
[3]. Paul Grossfeld, et al. Hypoplastic left heart syndrome: new genetic insights. J Am Coll Cardiol. 2009 Mar 24;53(12):1072-4. [Content Brief]
[4]. Stella Marie Reamon-Buettner, et al. A loss-of-function mutation in the binding domain of HAND1 predicts hypoplasia of the human hearts. Hum Mol Genet. 2008 May 15;17(10):1397-405. [Content Brief]
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