EGFR Mutation in Neonatal Nephrocutaneous Syndrome: Unveiling a Genetic Challenge
Sign Up to like & getrecommendations! Published in 2024 at "Journal of Pediatric Genetics"
DOI: 10.1055/s-0044-1801351
Abstract: Abstract Epidermal growth factor receptor (EGFR) is a transmembrane glycoprotein that exhibits tyrosine kinase signaling activity, playing a pivotal role in various cellular processes. Overexpression or overactivity of EGFR is significantly associated with inflammatory and… read more here.
Keywords: nephrocutaneous syndrome; neonatal nephrocutaneous; syndrome unveiling; egfr mutation ... See more keywords
A novel NEUROG3 mutation in neonatal diabetes associated with a neuro‐intestinal syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Diabetes"
DOI: 10.1111/pedi.12576
Abstract: Neonatal diabetes mellitus (NDM) is a rare form of non‐autoimmune diabetes usually diagnosed in the first 6 months of life. Various genetic defects have been shown to cause NDM with diverse clinical presentations and variable severity.… read more here.
Keywords: mutation neonatal; mutation; novel neurog3; diabetes associated ... See more keywords