Copy number variations in candidate genomic regions confirm genetic heterogeneity and parental bias in Hirschsprung disease - 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 (Orphanet journal of rare diseases, 2019)
Keywords: Birth defects; Candidate genes and regions; Chromosome aberrations; Chromosome abnormalities; Chromosomes; Comparative analysis; Comparative genomic hybridization; Copy number; Copy number variations; Custom array; Cytogenetics; Development and progression; Disease susceptibility; DNA probes; Down syndrome; Enteric nervous system; Gene regulation; Genes; Genetic aspects; Genetic disorders; Haplotypes; Hirschsprung disease; Hirschsprung's disease; Human Genetics; Hybridization; Instrument industry (Equipment); Intestine; Medical research; Medicine; Medicine & Public Health; Parenting; Pharmacology/Toxicology; Phox2b protein; Rare diseases; Rare gastrointestinal diseases; Semaphorins; United States; Comparative genomic hybridization; Copy number variations; Candidate genes and regions; Hirschsprung disease; Custom array