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Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
We report two patients with Rubinstein-Taybi syndrome out of a total of 16 tested who have a deletion of the region visualised by the cosmid probe RT1. These results further confirm this as a locus for Rubinstein-Taybi syndrome.
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| Hauptverfasser: | , , , , , |
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| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
1996
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1051820/ https://ncbi.nlm.nih.gov/pubmed/8825057 |
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