Refining CFTR-Related Metabolic Syndrome (CRMS)/Cystic Fibrosis Screen Positive, Inconclusive Diagnosis (CFSPID) Diagnosis: Impact of CFTR2 Variant Classifications

An unintended consequence of cystic fibrosis (CF) newborn screening (NBS) is the identification of infants with a positive NBS who do not meet the diagnostic criteria for CF (two CF-causing variants and/or sweat chloride > 60 mmol/L). This indeterminate diagnosis is called cystic fibrosis transmembr...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	MacKenzie Wyatt, Alexandra Quinn, Lincoln Shade, Meghan McGarry
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	MDPI AG 2025-07-01
سلاسل:	International Journal of Neonatal Screening
الموضوعات:	cystic fibrosis newborn screening cystic fibrosis transmembrane conductance regulator-related metabolic syndrome CRMS CF screen positive inconclusive diagnosis CFSPID
الوصول للمادة أونلاين:	https://www.mdpi.com/2409-515X/11/3/60
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!