A Rare Case of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Gene Mutation on Exon 8 in a Patient Presenting With Recurrent Infections and Failure to Thrive

Author:

Malwade Sudhir,Shaligram Ruhi,Garud Balakrushna P,Mane Shailaja

Publisher

Springer Science and Business Media LLC

Reference13 articles.

1. Cystic fibrosis;Dickinson KM;Pediatr Rev,2021

2. Cystic fibrosis;Elborn JS;Lancet,2016

3. Diagnosis of cystic fibrosis: consensus guidelines from the Cystic Fibrosis Foundation;Farrell PM;J Pediatr,2017

4. Programme WHO. The molecular genetic epidemiology of cystic fibrosis : report of a joint meeting of WHO/IECFTN/ICF(M)A/ECFS, Genoa, Italy, 19 June 2002. (2004). Accessed: August 27, 2024: https://iris.who.int/bitstream/handle/10665/68702/WHO_HGN_CF_WG_04.02.pdf?sequence=1&isAllowed=y.

5. Clinical profile and frequency of delta f508 mutation in Indian children with cystic fibrosis;Kabra SK;Indian Pediatr,2003

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