Use of ivacaftor in late diagnosed cystic fibrosis monozygotic twins heterozygous for F508del and R117H-7T – a case report
Author:
Publisher
Springer Science and Business Media LLC
Subject
Pulmonary and Respiratory Medicine
Link
http://link.springer.com/content/pdf/10.1186/s12890-019-0840-8.pdf
Reference43 articles.
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2. Marson FAL, Bertuzzo CS, Ribeiro JD. Classification of CFTR mutation classes. Lancet Respir Med. 2016;4:e37–8. https://doi.org/10.1016/S2213-2600(16)30188-6 .
3. Schechter MS. Non-genetic influences on cystic fibrosis lung disease: the role of sociodemographic characteristics, environmental exposures, and healthcare interventions. Semin Respir Crit Care Med. 2003;24:639–52. https://doi.org/10.1055/s-2004-815660 .
4. Salvatore F, Scudiero O, Castaldo G. Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes. Am J Med Genet. 2002;111:88–95. https://doi.org/10.1002/ajmg.10461 .
5. Mekus F, Ballmann M, Bronsveld I, Bijman J, Veeze H, Tümmler B. Categories of deltaF508 homozygous cystic fibrosis twin and sibling pairs with distinct phenotypic characteristics. Twin Res. 2000;3:277–93.
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