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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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Bibliographische Detailangaben
Hauptverfasser: McGaughran, J M, Gaunt, L, Dore, J, Petrij, F, Dauwerse, H G, Donnai, D
Format: Artigo
Sprache:Inglês
Veröffentlicht: 1996
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1051820/
https://ncbi.nlm.nih.gov/pubmed/8825057
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