Article

A personalized medicine approach to optimize care for a pediatric cystic fibrosis patient with atypical clinical symptoms

2023-06-22

Abstract excerpt

Mutations in the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene typically cause severe health complications in multiple organ systems, including the respiratory and gastrointestinal systems. Certain CFTR mutations, however, cause milder clinical phenotypes which may delay confirmatory diagnosis and treatment. Moreover, rare CFTR variants are not studied frequently or approved for genotype s...

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Literature Corpus work: aeb29e90-0a82-5e4a-80ba-528669c93ec6
DOI: 10.22541/au.168740466.61426104/v1

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