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Case Reflection of a Child With p.Phe312del/p.Phe508del Genotype Undetected on Newborn Screening and With No Clinical Features of Cystic Fibrosis Despite a Sweat Chloride Value in the Diagnostic Range.
Clarke, Jonathan Gadelsayed, Nadeem Elsammak, Mohammed Brady, Jennifer Elnazir, Basil
Clarke, Jonathan
Gadelsayed, Nadeem
Elsammak, Mohammed
Brady, Jennifer
Elnazir, Basil
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Date
2025-03-25
Date Submitted
Keywords
becker’s muscular dystrophy
CYSTIC FIBROSIS
newborn screening program
pediatric neurology
pediatric pulmonology
CYSTIC FIBROSIS
newborn screening program
pediatric neurology
pediatric pulmonology
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Language
en
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ISSN
2168-8184
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ISBN
DOI
10.7759/cureus.81151
PMID
40276426
PMCID
PMC12020654