Diagnosis of Cystic Fibrosis in Nonscreened Populations

Journal of Pediatrics

Volumn 181, Issue , 2017, Pages S52-S57.e2

  Sosnay, Patrick R ^a   White, Terry B ^b   Farrell, Philip M ^c   Ren, Clement L ^d   Derichs, Nico ^e   Howenstine, Michelle S ^d   Nick, Jerry A ^f   De Boeck, Kris ^g  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CYSTIC FIBROSIS FOUNDATION   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^d INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^f DEPARTMENT OF MEDICINE   (United States)

^g UNIVERSITY HOSPITALS LEUVEN   (Belgium)

Author keywords

adult diagnosis of CF; atypical CF; CFTR related disorder; cystic fibrosis; genotype; mutation; penetrance; variant

Indexed keywords

CHLORIDE; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR;

ARTICLE; BRONCHIECTASIS; CONSENSUS DEVELOPMENT; CYSTIC FIBROSIS; DIAGNOSTIC PROCEDURE; GENETIC ANALYSIS; HUMAN; MOLECULAR DIAGNOSIS; PANCREATIC INSUFFICIENCY; PHYSIOLOGIC MONITORING; PRIORITY JOURNAL; SWEAT CHLORIDE TESTING; GENETIC SCREENING; GENETICS; MUTATION; NEWBORN; NEWBORN SCREENING; PRACTICE GUIDELINE;

CYSTIC FIBROSIS; CYSTIC FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR; GENETIC TESTING; HUMANS; INFANT, NEWBORN; MUTATION; NEONATAL SCREENING; PRACTICE GUIDELINES AS TOPIC;

EID: 85010311094     PISSN: 00223476     EISSN: 10976833     Source Type: Journal    
DOI: 10.1016/j.jpeds.2016.09.068     Document Type: Article

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