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...

Popoln opis

Bibliografske podrobnosti

Principais autores:	MacKenzie Wyatt, Alexandra Quinn, Lincoln Shade, Meghan McGarry
Format:	Artigo
Jezik:	Inglês
Izdano:	MDPI AG 2025-07-01
Serija:	International Journal of Neonatal Screening
Teme:	cystic fibrosis newborn screening cystic fibrosis transmembrane conductance regulator-related metabolic syndrome CRMS CF screen positive inconclusive diagnosis CFSPID
Online dostop:	https://www.mdpi.com/2409-515X/11/3/60
Oznake:	Označite Brez oznak, prvi označite!