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

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...

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Bibliographic Details
Main Authors: Jaehui Ryu, Jung Min Ko, Choong-Ho Shin
Format: Article
Language:English
Published: BMC 2019-11-01
Series:BMC Medical Genetics
Subjects:
Fontaine progeroid syndrome, Gorlin
Chaudhry
Moss syndrome, Fontaine
Farriaux syndrome, SLC25A24
Online Access:http://link.springer.com/article/10.1186/s12881-019-0921-9

Internet

http://link.springer.com/article/10.1186/s12881-019-0921-9

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