Article
Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease.
Orphanet journal of rare diseases - 25 Nov 2019
Lantieri Francesca, Gimelli Stefania, Viaggi Chiara, Stathaki Elissavet, Malacarne Michela, Santamaria Giuseppe, Grossi Alice, Mosconi Manuela, Sloan-Béna Frédérique, Prato Alessio Pini, Coviello Domenico, Ceccherini Isabella
Abstract excerpt
BACKGROUND: Hirschsprung Disease (HSCR) is a congenital defect of the intestinal innervations characterized by complex inheritance. Many susceptibility genes including RET, the major HSCR gene, and several linked regions and associated loci have been shown to contribute to disease pathogenesis. Nonetheless, a proportion of patients still remains unexplained. Copy Number Variations (CNVs) have already been...
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