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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… Expand
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Highly Cited
2014
Highly Cited
2014
Gordon syndrome (GS), or distal arthrogryposis type 3, is a rare, autosomal-dominant disorder characterized by cleft palate and… Expand
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Highly Cited
2013
Highly Cited
2013
The transforming growth factor β (TGF‐β) family of growth factors are key regulators of mammalian development and their… Expand
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Highly Cited
2013
Highly Cited
2013
Distal arthrogryposis (DA) syndromes are the most common of the heritable congenital-contracture disorders, and ~50% of cases are… Expand
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Highly Cited
2010
Highly Cited
2010
Distal arthrogryposis type I (DA1) is a disorder characterized by congenital contractures of the hands and feet for which few… Expand
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Highly Cited
2008
Highly Cited
2008
BACKGROUND Myosin is a molecular motor and the essential part of the thick filament of striated muscle. The expression of myosin… Expand
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Highly Cited
2007
Highly Cited
2007
Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin–myosin… Expand
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Highly Cited
2003
Highly Cited
2003
To the Editor: We recently reported that distal arthrogryposis type 1 (DA1 [MIM 108120]) and distal arthrogryposis type 2B… Expand
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2000
2000
We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial… Expand
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Highly Cited
1999
Highly Cited
1999
The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference… Expand
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