Rubinstein-Taybi Syndrome

Known as: Broad Thumb-Hallux Syndrome, syndrome rubinstein taybi, Syndromes, Broad Thumb-Hallux 
A chromosomal disorder characterized by MENTAL RETARDATION, broad thumbs, webbing of fingers and toes, beaked nose, short upper lip, pouting lower… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1971-2018
0519712018

Papers overview

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2016
2016
Rubinstein-Taybi syndrome is characterized by a broad thumb and bulbous hallux, short stature, intellectual disability and… (More)
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2010
2010
Rubinstein-Taybi syndrome (RTS) is a congenital disorder characterized by typical facial features, broad thumbs and toes, with… (More)
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2007
2007
A patient with Rubinstein Taybi Syndrome ( RTS) was found to have spontaneous patella dislocation and spontaneous patella… (More)
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2006
2006
Rubinstein-Taybi Syndrome (RSTS, MIM 180849) is a rare congenital disorder characterized by mental and growth retardation, broad… (More)
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Highly Cited
2005
Highly Cited
2005
Deletions, translocations, or point mutations in the CREB-binding protein (CBP) gene have been associated with Rubinstein-Taybi… (More)
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Highly Cited
2004
Highly Cited
2004
We studied a mouse model of the haploinsufficiency form of Rubinstein-Taybi syndrome (RTS), an inheritable disorder caused by… (More)
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1996
1996
The authors described symptoms of Rubinstein-Taybi syndrome and presented a treatment of this disease. It concerned a 1-year-old… (More)
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1993
1993
Two patients with Rubinstein Taybi Syndrome (RTS) were found to have congenital dislocation of the patella (CDP). The dislocation… (More)
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1992
1992
Rubinstein-Taybi Syndrome was first described in 1957 but only in 1963 as a distinguishable type of moderate mental retardation… (More)
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1986
1986
The authors report an unusual case of Rubinstein-Taybi Syndrome, in which alterations such as blepharoptosis, unilateral… (More)
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