Article
Pancreatic Insufficiency in a Child with p.Gly542* and c.2657+5G>A Heterozygote CFTR: A Case Report.
Clinical medicine & research - 1 Mar 2022
Dos Anjos Fernanda, Wruck Jonatha, do Carmo Thiago Inácio Teixeira, Miranda Soares Victor Emanuel, de Resende E Silva Débora Tavares, Bagatini Margarete Dulce, de Oliveira Maciel Sarah Franco Vieira
Abstract excerpt
Cystic fibrosis is a monogenic and autosomal recessive disease. It is caused by mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene responsible for encoding the CFTR protein. Involvement of the gastrointestinal and respiratory systems is the main clinical manifestation. In this case, we report a heterozygous CFTR patient harboring class I (p.Gly542*) and class V (c.2657+5G>A) mutations. The...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.