Article
Clinical Manifestations and Outcomes of 20 Korean Hypochondroplasia Patients with the FGFR3 N540K variant.
Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association - 1 Mar 2023
Kim Hwa Young, Lee Young Ah, Shin Choong Ho, Cho Tae-Joon, Ko Jung Min
Abstract excerpt
BACKGROUND: Hypochondroplasia is a skeletal dysplasia caused by activating pathologic variants of FGFR3. The N540K variant accounts for 60-70% of reported cases and is associated with severe manifestations. Here, we analyze the clinical manifestations and outcomes of Korean patients with hypochondroplasia harboring the FGFR3 N540K variant. METHODS: Medical records of 20 unrelated patients with genetically...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.