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Bronchiectasis with or without elevated sweat chloride 3
613071


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Bronchiectasis with or without elevated sweat chloride 3

Clinical feature: 

Definition: Bronchiectasis with or without elevated sweat chloride type 3 is an autosomal recessive disorder caused by mutations of the SCNN1G gene. Mutations not only account for a systic fibrosis-like disease but also typical cystic fibrosis can be aggravated.

Systematic link table: 

Bronchiectasis with or without elevated sweat chloride
Bronchiectasis with or without elevated sweat chloride 1
SCNN1B
Bronchiectasis with or without elevated sweat chloride 2
SCNN1A
Bronchiectasis with or without elevated sweat chloride 3
SCNN1G

Literature: 

Fajac I et al. (2008) Could a defective epithelial sodium channel lead to bronchiectasis.
Mutesa L et al. (2009) Genetic analysis of Rwandan patients with cystic fibrosis-like symptoms: identification of novel cystic fibrosis transmembrane conductance regulator and epithelial sodium channel gene variants.