Distal arthrogryposis

Known as: Arthrogryposis, distal, distal arthrogryposis syndrome 
A form of arthrogryposis primarily affecting the hands and the feet. [HPO:probinson]
National Institutes of Health

Papers overview

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2017
2017
The genetic work-up of arthrogryposis is challenging due to the diverse clinical and molecular etiologies. We report a-183/12… (More)
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2014
2014
Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and… (More)
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2013
2013
Distal arthrogryposis (DA) syndromes are the most common of the heritable congenital-contracture disorders, and ~50% of cases are… (More)
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2013
2013
The distal arthrogryposis (DA) syndromes are a group of disorders characterized by non-progressive congenital contractures of the… (More)
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2012
2012
AIM Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric… (More)
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2011
2011
BACKGROUND Few genes responsible for distal arthrogryposis type 1 are known, although genes coding for the proteins in the… (More)
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2010
2010
Distal arthrogryposis type I (DA1) is a disorder characterized by congenital contractures of the hands and feet for which few… (More)
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2008
2008
BACKGROUND Myosin is a molecular motor and the essential part of the thick filament of striated muscle. The expression of myosin… (More)
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2007
2007
Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin-myosin… (More)
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1985
1985
We report on a mother and her dizygotic twin fetuses who were affected with distal arthrogryposis. In addition the mother has… (More)
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