Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

The convergence of advances in medical science, human biology, data science, and
technology has enabled the generation of new insights into the phenotype known as …

The genetic landscape of Parkinson's disease (PD) is characterised by rare high penetrance
pathogenic variants causing familial disease, genetic risk factor variants driving PD risk in a …

Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

Monogenic diabetes results from one or more defects in a single gene. The disease may be
inherited within families as a dominant, recessive or non-Mendelian trait or may present as a …

ISPAD Clinical Practice Consensus Guidelines 2022: The diagnosis and management of
monogenic diabetes in children and adolescents - PMC Back to Top Skip to main content NIH …

Maturity-onset diabetes of the young (MODY) is an unusual form of diabetes with specific
features that distinguish it from type 1 and type 2 diabetes. There are 14 known subtypes of …

The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic
variants in ABCC8 and KCNJ11. These genes encode the subunits of the β‐cell ATP …

An ideal resource for both pediatricians and endocrinologists, Sperling's Pediatric
Endocrinology, 5th Edition, brings you fully up to date with accelerating research; new …

Abstract Potassium channels (K+-channels) selectively control the passive flow of potassium
ions across biological membranes and thereby also regulate membrane excitability. Genetic …