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

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...

Olles dieđut

Bibliográfalaš dieđut

Váldodahkkit:	Jaehui Ryu, Jung Min Ko, Choong-Ho Shin
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	BMC 2019-11-01
Ráidu:	BMC Medical Genetics
Fáttát:	Fontaine progeroid syndrome, Gorlin Chaudhry Moss syndrome, Fontaine Farriaux syndrome, SLC25A24
Liŋkkat:	http://link.springer.com/article/10.1186/s12881-019-0921-9
Fáddágilkorat:	Lasit fáddágilkoriid Eai fáddágilkorat, Lasit vuosttaš fáddágilkora!