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A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.

Jaehui RyuJung Min KoChoong-Ho Shin
Published in: BMC medical genetics (2019)
We describe a Korean girl with typical clinical findings of FPS and a de novo mutation in SLC25A24, as well as 10 years of clinical follow-up, including growth and developmental achievements.
Keyphrases
  • case report