Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease

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. None...

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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6878652/
https://ncbi.nlm.nih.gov/pubmed/31767031
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1205-3
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