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

Authors
Type
Published Article
Journal
Journal of medical genetics
Publication Date
Volume
31
Issue
4
Pages
325–327
Identifiers
PMID: 7915329
Source
Medline
License
Unknown

Abstract

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 between Hirschsprung's disease and the neurocristopathies and the aetiological role of abnormalities of neural crest development in these conditions are discussed.

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