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Paternal reciprocal translocation t(11;16)(p13;q24.3) in a Silver–Russel syndrome patient

✍ Scribed by Vundinti Babu Rao; Kerketta Lily; Korgaonkar Seema; Kanjaksha Ghosh; Mohanty Dipika

Book ID
113987337
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
358 KB
Volume
46
Category
Article
ISSN
0003-3995

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✍ Petrij, Fred; Dorsman, Josephine C.; Dauwerse, Hans G.; Giles, Rachel H.; Peeter 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 32 KB 👁 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