Načítá se...
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...
Uloženo v:
| Vydáno v: | Case Rep Genet |
|---|---|
| Hlavní autoři: | , , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Hindawi
2017
|
| Témata: | |
| On-line přístup: | 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 |
| Tagy: |
Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!
|