Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report

Here, we describe a cystic fibrosis (CF) family with affected siblings, two of whom have a combination of I1234V and 1677delTA variants with classic CF features, the third child with a combination of I1234V and L997F variants with atypical CF, and the apparently healthy mother with a combination of...

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Detalles Bibliográficos
Autores principales: Tkemaladze, Tinatin, Kvaratskhelia, Eka, Ghughunishvili, Mariam, Lentze, Michael J., Abzianidze, Elene, Skrahina, Volha, Rolfs, Arndt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550642/
https://www.ncbi.nlm.nih.gov/pubmed/36238659
http://dx.doi.org/10.1016/j.rmcr.2022.101750

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550642/
https://www.ncbi.nlm.nih.gov/pubmed/36238659
http://dx.doi.org/10.1016/j.rmcr.2022.101750

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