A Rare Haplotype of the RET Proto-Oncogene Is a Risk-Modifying Allele in Hirschsprung Disease

Hirschsprung disease (HSCR) is a common genetic disorder characterized by intestinal obstruction secondary to enteric aganglionosis. HSCR demonstrates a complex pattern of inheritance, with the RET proto-oncogene acting as a major gene and with several additional susceptibility loci related to the R...

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Опубликовано в: :Am J Hum Genet
Главные авторы: Griseri, Paola, Pesce, Barbara, Patrone, Giovanna, Osinga, Jan, Puppo, Francesca, Sancandi, Monica, Hofstra, Robert, Romeo, Giovanni, Ravazzolo, Roberto, Devoto, Marcella, Ceccherini, Isabella
Формат: Artigo
Язык:Inglês
Опубликовано: Elsevier 2002
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Report
Online-ссылка:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC378552/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/12214285/
https://ncbi.nlm.nih.govhttps://doi.org/10.1086/342774
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