Rubinstein-Taybi syndrome with deletions of FISH probe RT1 at 16p13.3: two UK patients.
AUTOR(ES)
McGaughran, J M
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1051820Documentos Relacionados
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