Article
Novel Variants and Phenotypes in NEUROG3-Associated Syndrome.
The Journal of clinical endocrinology and metabolism - 17 Dec 2022
Wejaphikul Karn, Srilanchakon Khomsak, Kamolvisit Wuttichart, Jantasuwan Supavadee, Santawong Kanokwan, Tongkobpetch Siraprapa, Theerapanon Thanakorn, Damrongmanee Alisara, Hongsawong Nattaphorn, Ukarapol Nuthapong, Dejkhamron Prapai, Supornsilchai Vichit, Porntaveetus Thantrira, Shotelersuk Vorasuk
Abstract excerpt
CONTEXT: Biallelic pathogenic variants in the NEUROG3 gene cause malabsorptive diarrhea, insulin-dependent diabetes mellitus (IDDM), and rarely hypogonadotropic hypogonadism. With only 17 reported cases, the clinical and mutational spectra of this disease are far from complete. OBJECTIVE: To identify the underlying genetic etiology in 3 unrelated Thai patients who presented with early-onset malabsorptive...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.