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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

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ARTHROGRYPOSIS, DISTAL, TYPE 1
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1

Papers overview

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2014
2014
Identification of three novel ECEL1 mutations in three families with distal arthrogryposis type 5D
Arthrogryposis refers to congenital contracture in at least two different body parts. When distal joints are primarily involved… 
2012
2012
Distal arthrogryposis: clinical and genetic findings
Aim:  Distal arthrogryposis is characterized by congenital contractures predominantly in hands and feet. Mutations in sarcomeric… 
2011
2011
Exome sequencing identifies an MYH3 mutation in a family with distal arthrogryposis type 1.
BACKGROUND Few genes responsible for distal arthrogryposis type 1 are known, although genes coding for the proteins in the… 
Review
2006
Review
2006
332 PULMONARY DISEASE IS A COMPONENT OF DISTAL ARTHROGRYPOSIS TYPE 5.
Purpose We report a three-generation family with distal arthrogryposis type 5 (DA5). Methods Clinical evaluation of affected… 
2006
2006
A new distal arthrogryposis syndrome characterized by plantar flexion contractures
The distal arthrogryposis (DA) syndromes are a distinct group of disorders characterized by contractures of two or more different… 
1999
1999
Prenatal diagnosis of distal arthrogryposis type 1
Abstract A 23-year-old woman, gravida 1 parity 0, was referred for routine ultrasound examination at 23 weeks gestation. Fetal… 
Review
1993
Review
1993
Arthrogryposis, ophthalmoplegia, and retinopathy: confirmation of a new type of arthrogryposis.
Arthrogryposis multiplex congenita is a heterogeneous condition and many different types are clinically recognisable. Recently, a… 
1992
1992
Prenatal diagnosis of distal arthrogryposis type I by ultrasonography
Two consecutive pregnancies in a woman with initially undiagnosed type I distal arthrogryposis (DA) are reported. A prenatal… 
1986
1986
Distal arthrogryposis type II: a family with varying congenital abnormalities.
Five family members with distal arthrogryposis in two generations are reported. Cleft lip and palate, micrognathia, ptosis… 
1980
1980
Autosomal-dominant inheritance of distal arthrogryposis.
We report on a 32-year-old Italian man, his 5-year-old daughter, and his 3 1/2-year-old son, all of whom had congenital joint… 
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