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

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 carr...

Source: BMC Medical Genetics - November 27, 2019 Category: Genetics & Stem Cells Authors: Jaehui Ryu, Jung Min Ko and Choong-Ho Shin Tags: Case report Source Type: research