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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...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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BioMed Central
2019
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| 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 |