A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature

A novel cystic fibrosis gene mutation c.2490insT in a Palestinian patient: A case report and review of the literature

We report the case of a 19-year-old male patient of Palestinian descent, who presented with a 1-year history of recurrent Pseudomonas aeruginosa respiratory infections, weight loss, chronic diarrhea, and a normal chloride sweat test. A panel for common cystic fibrosis transmembrane conductance regul...

Full description

Bibliographic Details
Main Authors: Hassan Chami, Samer Abou Arbid, Rebecca Badra, Chantal Farra
Format: Article
Language:English
Published: Wolters Kluwer Medknow Publications 2017-01-01
Series:Annals of Thoracic Medicine
Subjects:
Atypical cystic fibrosis
conductance transmembrane regulatory gene
genetics
new mutation
normal chloride sweat test
Online Access:http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2017;volume=12;issue=4;spage=290;epage=293;aulast=Chami

Internet

http://www.thoracicmedicine.org/article.asp?issn=1817-1737;year=2017;volume=12;issue=4;spage=290;epage=293;aulast=Chami

Similar Items