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
病例回顾：一名新生儿筛查未检出p.Phe312del/p.Phe508del基因型的儿童，尽管汗液氯化物值在诊断范围内，但无囊性纤维化临床表现。
期刊:Cureus Journal of Medical Science
影响因子:1.3
doi:10.7759/cureus.81151
Clarke, Jonathan; Gadelsayed, Nadeem; Elsammak, Mohammed; Brady, Jennifer; Elnazir, Basil
