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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| Main Authors: | , , |
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| Format: | Book |
| Published: |
BMC,
2019-11-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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Internet
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| Call Number: |
A1234.567 |
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| Copy 1 | Available |