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

被引：0
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作者：
Francesca Lantieri
Stefania Gimelli
Chiara Viaggi
Elissavet Stathaki
Michela Malacarne
Giuseppe Santamaria
Alice Grossi
Manuela Mosconi
Frédérique Sloan-Béna
Alessio Pini Prato
Domenico Coviello
Isabella Ceccherini
机构：
[1] Universita’ degli Studi di Genova,Dipartimento di Scienze della Salute, sezione di Biostatistica
[2] University Hospitals of Geneva,Department of Medical Genetic and Laboratories
[3] S.C. Laboratorio Genetica Umana,U.O.C. Genetica Medica
[4] Ospedali Galliera,UOC Chirurgia Pediatrica
[5] IRCCS,Present address: Children Hospital
[6] Istituto Giannina Gaslini,Present address: U.O.C. Laboratorio di Genetica Umana
[7] Istituto Giannina Gaslini,undefined
[8] AON SS Antonio e Biagio e Cesare Arrigo,undefined
[9] IRCCS Istituto Giannina Gaslini,undefined
来源：
Orphanet Journal of Rare Diseases | / 14卷
关键词：
Hirschsprung disease; Copy number variations; Comparative genomic hybridization; Custom array; Candidate genes and regions;
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