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Article

Achalasia: will genetic studies provide insights?

Human genetics - 1 Oct 2010

Gockel Henning R, Schumacher Johannes, Gockel Ines, Lang Hauke, Haaf Thomas, Nöthen Markus M

Abstract excerpt

Despite increasing understanding of the pathophysiology of achalasia, the etiology of this esophageal motility disorder remains largely unknown. However, the occurrence of familial achalasia and its association with well-defined genetic syndromes suggest the involvement of genetic factors. Mutant mouse models display gastrointestinal disturbances that are similar to those observed in achalasia patients. The...

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PMID: 20700745
DOI: 10.1007/s00439-010-0874-8

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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