Linked Life Data

8401581

Source:http://linkedlifedata.com/resource/pubmed/id/8401581

Statements in which the resource exists.
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pubmed-article:8401581pubmed:abstractTextHirschsprung disease (HSCR) is characterized by a congenital absence of enteric ganglia along a variable length of the intestine. Although long considered to be a multifactorial disease, we have identified linkage in a subset of five HSCR families to the pericentromeric region of chromosome 10, thereby providing monogenic inheritance in some families. A maximum two-point lod score of 3.37 (theta = 0.045) was observed between HSCR and D10S176, under an incompletely penetrant dominant model. Multipoint, affecteds-only and non-parametric analyses supported this finding and localize this gene to a region of approximately 7 centiMorgans, in close proximity to the locus for multiple endocrine neoplasia type 2 (MEN2). The co-occurrence of these two entities in some families might be attributable to shared pathogenetic origins.lld:pubmed
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pubmed-article:8401581pubmed:articleTitleA gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.lld:pubmed
pubmed-article:8401581pubmed:affiliationDepartment of Human Genetics, University of Pittsburgh, Pennsylvania 15261.lld:pubmed
pubmed-article:8401581pubmed:publicationTypeJournal Articlelld:pubmed
pubmed-article:8401581pubmed:publicationTypeResearch Support, U.S. Gov't, P.H.S.lld:pubmed
pubmed-article:8401581pubmed:publicationTypeResearch Support, Non-U.S. Gov'tlld:pubmed
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