Article
A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10.
Nature genetics - 1 Aug 1993
Angrist M, Kauffman E, Slaugenhaupt S A, Matise T C, Puffenberger E G, Washington S S, Lipson A, Cass D T, Reyna T, Weeks D E
Abstract excerpt
Hirschsprung 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...
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