A number of recent reports have called attention to a group of patients who share the main clinical findings of the Smith-Lemli-Opitz syndrome (SLOS), albeit with an unusually severe degree of expression. This has included severe or even complete failure of genital development in males, multiple vis
โฆ LIBER โฆ
Invited Editorial comment chromosomal localisation of the Rubinstein-Taybi syndrome?
โ Scribed by Hennekam, Raoul C. M.
- Publisher
- John Wiley and Sons
- Year
- 1991
- Tongue
- English
- Weight
- 143 KB
- Volume
- 38
- Category
- Article
- ISSN
- 0148-7299
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Most reported microdeletions of the CREBbinding protein (CBP) gene in the Rubinstein-Taybi syndrome (RTS) were detected by fluorescence in situ hybridization (FISH) with a single cosmid probe specific to the 3 region of the gene. In order to test the hypothesis that the rate of microdeletionpositive