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Hirschsprung's disease associated with a deletion of chromosome 10 (q11.2q21.2): a further link with the neurocristopathies?

We report a patient with total colonic aganglionosis in association with a deletion of part of the long arm of chromosome 10: (del(10)(q11.2q21.2)). This deletion includes the ret proto-oncogene, which has recently been implicated in multiple endocrine neoplasia type 2A (MEN 2A). The possible links...

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Hlavní autoři: Fewtrell, M S, Tam, P K, Thomson, A H, Fitchett, M, Currie, J, Huson, S M, Mulligan, L M
Médium: Artigo
Jazyk:Inglês
Vydáno: 1994
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049807/
https://ncbi.nlm.nih.gov/pubmed/7915329
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