Phenotypic and genetic characterization of patients with features of “nonclassic” forms of cystic fibrosis

Author:

Groman Joshua D.,Karczeski Barbara,Sheridan Molly,Robinson Terry E.,Fallin M. Daniele,Cutting Garry R.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference18 articles.

1. Cystic fibrosis;Welsh,2001

2. What is cystic fibrosis?;Knowles;N Engl J Med,2002

3. Atypical cystic fibrosis: diagnostic and management dilemmas;Wallis;J R Soc Med,2003

4. Nonclassic cystic fibrosis and CFTR-related diseases;Boyle;Curr Opin Pulm Med,2003

5. Time to think again: cystic fibrosis is not an “all or none” disease;Bush;Pediatr Pulmonol,2000

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2. Aquagenic wrinkling of the palms in a cohort of Greek children diagnosed with cystic fibrosis: Associated clinical parameters;Journal of the European Academy of Dermatology and Venereology;2023-07-17

3. CFTR variant testing: a technical standard of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2020-08

4. Cystic Fibrosis;Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics;2020

5. Diagnosis and Presentation of Cystic Fibrosis;Kendig's Disorders of the Respiratory Tract in Children;2019

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