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Clin Case Rep. 2017 Jan 19;5(2):139-144. doi: 10.1002/ccr3.764. eCollection 2017 Feb.

A rare CFTR mutation associated with severe disease progression in a 10-year-old Hispanic patient.

Author information

1
Indiana University School of Medicine Indianapolis Indiana USA.
2
Department of Pediatrics and Adolescent Medicine Western Michigan University Homer Stryker School of Medicine Kalamazoo Michigan USA.

Abstract

Cystic fibrosis is a life-shortening multisystem genetic disease. While readily tested, few tests analyze rare gene mutations prevalent among ethnic minorities. This case of a Hispanic child with a rare CF-causing c.233dupT mutation and severe disease emphasizes the need for broad CFTR mutation analyses and genotyping particularly in minority populations.

KEYWORDS:

Cystic fibrosis; cystic fibrosis genetic testing

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