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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

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
Genetic Diseases of PIEZO1 and PIEZO2 Dysfunction.
Review
2013
Review
2013
The neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders… 
Highly Cited
2013
Highly Cited
2013
A mutation in TGFB3 associated with a syndrome of low muscle mass, growth retardation, distal arthrogryposis and clinical features overlapping with marfan and loeys–dietz syndrome
The transforming growth factor β (TGF‐β) family of growth factors are key regulators of mammalian development and their… 
Highly Cited
2008
Highly Cited
2008
Embryonic myosin heavy-chain mutations cause distal arthrogryposis and developmental myosin myopathy that persists postnatally.
BACKGROUND Myosin is a molecular motor and the essential part of the thick filament of striated muscle. The expression of myosin… 
Highly Cited
2007
Highly Cited
2007
Distal arthrogryposis and muscle weakness associated with a β-tropomyosin mutation
Tropomyosin (TM), a sarcomeric thin-filament protein, plays an essential part in muscle contraction by regulating actin–myosin… 
Highly Cited
2004
Highly Cited
2004
Mutation of perinatal myosin heavy chain associated with a Carney complex variant.
Highly Cited
2003
Highly Cited
2003
Mutations in TNNT3 cause multiple congenital contractures: a second locus for distal arthrogryposis type 2B.
To the Editor: We recently reported that distal arthrogryposis type 1 (DA1 [MIM 108120]) and distal arthrogryposis type 2B… 
2000
2000
Two brothers with distal arthrogryposis, peculiar facial appearance, cleft palate, short stature, hydronephrosis, retentio testis, and normal intelligence: a new type of distal arthrogryposis?
We report on two brothers, a 22-month-old boy and a 7-month-old boy, with multiple distal arthrogryposis (DA), peculiar facial… 
Highly Cited
1999
Highly Cited
1999
The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria
The Silver-Russell syndrome (SRS) is characterised by severe intrauterine growth retardation, with a preserved head circumference… 
Review
1982
Review
1982
The distal arthrogryposes: delineation of new entities--review and nosologic discussion.
We report on 44 patients (18 with additional affected family members), with congenital distal limb contractures identified from a… 
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