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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Publicado en:Orphanet J Rare Dis
Autores principales: 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
Lenguaje:Inglês
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea: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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