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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