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

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 genetic...

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Detalles Bibliográficos
Autores principales: Ryu, Jaehui, Ko, Jung Min, Shin, Choong-Ho
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882017/
https://www.ncbi.nlm.nih.gov/pubmed/31775791
http://dx.doi.org/10.1186/s12881-019-0921-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6882017/
https://www.ncbi.nlm.nih.gov/pubmed/31775791
http://dx.doi.org/10.1186/s12881-019-0921-9

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