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...

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Ngā kaituhi matua:	MacKenzie Wyatt, Alexandra Quinn, Lincoln Shade, Meghan McGarry
Hōputu:	Artigo
Reo:	Inglês
I whakaputaina:	MDPI AG 2025-07-01
Rangatū:	International Journal of Neonatal Screening
Ngā marau:	cystic fibrosis newborn screening cystic fibrosis transmembrane conductance regulator-related metabolic syndrome CRMS CF screen positive inconclusive diagnosis CFSPID
Urunga tuihono:	https://www.mdpi.com/2409-515X/11/3/60
Ngā Tūtohu:	Tāpirihia he Tūtohu Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!