Article
Homozygous mutation in murine retrovirus integration site 1 gene associated with a non-syndromic form of isolated familial achalasia.
Neurogastroenterology and motility - 1 Dec 2020
Koehler Katrin, Hmida Dorra, Schlossmann Jens, Landgraf Dana, Reisch Nicole, Schuelke Markus, Huebner Angela
Abstract excerpt
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 isolated...
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