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Homozygous mutation in murine retrovirus integration site 1 gene associated with a non‐syndromic form of isolated familial achalasia

Koehler, Katrin ; Hmida, Dorra ; Schlossmann, Jens ; Landgraf, Dana ; Reisch, Nicole ; Schuelke, Markus ; Huebner, Angela


Background Achalasia is a condition characterized by impaired function of esophageal motility and incomplete relaxation of the lower esophagus sphincter, causing dysphagia and regurgitation. Rare cases of early-onset achalasia appear often in combination with further symptoms in a syndromic form as an inherited disease. Methods Whole genome sequencing was used to investigate the genetic basis of ...


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