" /> Bronchiectasis with or without elevated sweat chloride 1 - CISMeF





Preferred Label : Bronchiectasis with or without elevated sweat chloride 1;

Symbol : BESC1;

CISMeF acronym : BESC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cystic fibrosis-like syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the sodium channel, nonvoltage-gated 1, beta gene (SCNN1B, 600760.0009);

Laboratory abnormalities : Elevated sweat chloride (some); Increased nasal-potential difference (some); Normal exocrine pancreatic function;

Prefixed ID : #211400;

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29/04/2025


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