RET genotypes comprising specific haplotypes of polymorphic variants predispose to isolated Hirschsprung disease

BACKGROUND—Hirschsprung disease (HSCR), which may be sporadic or familial, occurs in 1:5000 live births and presents with functional intestinal obstruction secondary to aganglionosis of the hindgut. Germline mutations of the RET proto-oncogene are believed to account for up to 50% of familial cases...

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Autores principales: Borrego, S., Ruiz, A., Saez, M. E., Gimm, O., Gao, X., Lopez-Alonso, M., Hernandez, A., Wright, F., Antinolo, G., Eng, C.
Formato: Artigo
Lenguaje:Inglês
Publicado: BMJ Group 2000
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1734658/
https://ncbi.nlm.nih.gov/pubmed/10922382
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.37.8.572
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