G378X-I148T CFTR variant: A new complex allele in a cystic fibrosis newborn with pancreatic insufficiency

Mol Genet Genomic Med. 2022 Sep;10(9):e2033. doi: 10.1002/mgg3.2033. Epub 2022 Aug 13.

Authors

Vito Terlizzi¹, Claudia Centrone², Matteo Botti³, Giovanni Taccetti¹

Affiliations

¹ Department of Paediatric Medicine Cystic Fibrosis Regional Reference Center, Meyer Children's Hospital, Florence, Italy.
² Diagnostic Genetics Unit, Careggi University Hospital, Florence, Italy.
³ Tuscany Support Cystic Fibrosis Service, Department of Pediatrics, Leghorn Hospital, Leghorn, Italy.

No abstract available

Publication types

Letter

MeSH terms

Alleles
Cystic Fibrosis Transmembrane Conductance Regulator / genetics
Cystic Fibrosis* / complications
Cystic Fibrosis* / genetics
Exocrine Pancreatic Insufficiency* / genetics
Humans
Infant, Newborn
Mutation

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator