Non-Cystic Fibrosis-Related Meconium Ileus: GUCY2C-Associated Disease Discovered through Rapid Neonatal Whole-Exome Sequencing.
case_report · Level V
Where this comes from
- Record sourced from PubMed, PMID 31079856.
- Also identified by DOI 10.1016/j.jpeds.2019.04.022.
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Abstract
Meconium ileus is caused by cystic fibrosis; however, mutations in the GUCY2C gene also cause this disease. We report non-cystic fibrosis meconium ileus in an infant of non-Middle Eastern origin with compound heterozygous mutations in GUCY2C.
Medical subject headings
- Meconium Ileus
- Mutation, Missense
- Receptors, Enterotoxin
- Exome Sequencing