A case of Raine syndrome presenting with facial dysmorphy and review of literature
Abstract Background Raine syndrome (RS) – an extremely rare autosomal recessive genetic disorder, is caused by a biallelic mutation in the FAM20C gene. Some of the most common clinical features include generalized osteosclerosis with a periosteal bone formation, dysmorphic face, and thoracic hypopla...
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| Hauptverfasser: | , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
BMC
2018-05-01
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| Schriftenreihe: | BMC Medical Genetics |
| Schlagworte: | |
| Online-Zugang: | http://link.springer.com/article/10.1186/s12881-018-0593-x |
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