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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Format: | Book |
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BMC,
2018-05-01T00:00:00Z.
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A1234.567 |
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