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Article

A novel susceptibility locus for Hirschsprung’s disease maps to 4q31.3–q32.3

30 Jun 2006

Abstract excerpt

We report on a multigenerational family with isolated Hirschsprung's disease (HSCR). Five patients were affected by either short segment or long segment HSCR. The family consists of two main branches: one with four patients (three siblings and one maternal uncle) and one with one patient. Analysis of the RET gene, the major gene involved in HSCR susceptibility, revealed neither linkage nor mutations. A genome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 16816022
DOI: 10.1136/jmg.2005.038125

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