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

• Main Authors: Jaehui Ryu (Author), Jung Min Ko (Author), Choong-Ho Shin (Author)
• Format: Knjiga
• Izdano: BMC, 2019-11-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

Abstract Background Gorlin-Chaudhry-Moss syndrome (GCMS) and Fontaine-Farriaux syndrome (FFS) are extremely rare genetic disorders that share similar clinical manifestations. Because a de novo missense mutation of the solute carrier family 25 member 24 (SLC25A24) gene was suggested to be the common...