Clinical manifestations and outcomes of 20 Korean hypochondroplasia patients with the FGFR3 N540K variant.

Hwa Young KimYoung Ah LeeChoong Ho ShinTae-Joon ChoJung Min Ko

Published in: Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association (2022)

Neurodevelopmental abnormalities are frequently observed in patients with N540K-related hypochondroplasia. Close monitoring of skeletal manifestations and neurodevelopmental status is necessary for hypochondroplasia.

Keyphrases

congenital heart disease
type diabetes
metabolic syndrome
skeletal muscle
drug induced
glycemic control