Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

doi:10.1038/sj.ejhg.5201199

Article

Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

European journal of human genetics : EJHG - 1 Aug 2004

Burzynski Grzegorz M, Nolte Ilja M, Osinga Jan, Ceccherini Isabella, Twigt Bas, Maas Saskia, Brooks Alice, Verheij Joke, Plaza Menacho Ivan, Buys Charles H C M, Hofstra Robert M W

Abstract excerpt

Hirschsprung disease (HSCR), a congenital disorder characterized by intestinal obstruction due to absence of enteric ganglia along variable lengths of the intestinal tract, occurs both in familial and sporadic cases. RET mutations have been found in approximately 50% of the families, but explains only a minority of sporadic cases. This study aims at investigating a possible role of RET in sporadic HSCR patients....

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Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Abstract excerpt

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Localizing a putative mutation as the major contributor to the development of sporadic Hirschsprung disease to the RET genomic sequence between the promoter region and exon 2.

Abstract excerpt

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