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Freeman–Sheldon Syndrome: First Molecularly Confirmed Case from Sub-Saharan Africa
We report a case of a male baby who has characteristic signs of Freeman–Sheldon syndrome, a rare but recognizable, severe autosomal dominant form of distal arthrogryposis. Diagnosis was based on the distinctive clinical characteristics of the syndrome and confirmed by genetic analysis that showed a...
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| Publicado no: | Case Rep Genet |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Hindawi
2017
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5443993/ https://ncbi.nlm.nih.gov/pubmed/28584669 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2017/9327169 |
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