Cystic fibrosis genetic counseling difficulties due to the identification of novel mutations in the CFTR gene
Author:
Publisher
Elsevier BV
Subject
Pulmonary and Respiratory Medicine,Pediatrics, Perinatology, and Child Health
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1. Clinical Course of a Child With Cystic Fibrosis and the Genotype F508del/CFTRdup1_11: A Case Report;Cureus;2024-08-26
2. A Novel Pathogenic Variant of the CFTR Gene in a Patient with Cystic Fibrosis Phenotype—c.4096A > T;Journal of Pediatric Genetics;2019-08-28
3. Hereditäre Stoffwechselerkrankungen – Schwangerschaft bei Mukoviszidose – ein Überblick;Geburtshilfe und Frauenheilkunde;2017-01-30
4. Single-cell high resolution melting analysis: A novel, generic, pre-implantation genetic diagnosis (PGD) method applied to cystic fibrosis (HRMA CF-PGD);Journal of Cystic Fibrosis;2016-03
5. Rhinosinusitis bei Mukoviszidose;HNO;2015-10-22
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