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Tuberous sclerosis in a child with de novo translocation t(3; 12) (p26.3; q23.3)

โœ Scribed by R. Fahsold; H.-D. Rott; U. Claussen; B. Schmalenberger

Book ID
115090258
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
259 KB
Volume
40
Category
Article
ISSN
0009-9163

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โœ Petrij, Fred; Dorsman, Josephine C.; Dauwerse, Hans G.; Giles, Rachel H.; Peeter ๐Ÿ“‚ Article ๐Ÿ“… 2000 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 32 KB ๐Ÿ‘ 2 views

## Rubinstein -Taybi syndrome (RTS) is a multiple congenital anomalies and mental retardation syndrome characterized by facial abnormalities, broad thumbs, and broad big toes. We have shown previously that disruption of the human CREB-binding protein (CBP) gene, either by gross chromosomal rearrang