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Acquired Camptodactyly

Known as: CAMPTODACTYLY, camptodactylia, campylodactyly 
 
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Congenital disorders of glycosylation (CDG) are rare genetic defects mainly in the post-translational modification of proteins… Expand
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Highly Cited
2008
Highly Cited
2008
OBJECTIVES. Deletion 1p36 syndrome is a recently delineated disorder, considered to be the most common subtelomeric microdeletion… Expand
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Highly Cited
2006
Highly Cited
2006
Activating mutations of FGFR3, a negative regulator of bone growth, are well known to cause a variety of short-limbed bone… Expand
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Highly Cited
2006
Highly Cited
2006
Trismus‐pseudocamptodactyly syndrome (TPS) is a rare autosomal dominant distal arthrogryposis (DA) characterized by an inability… Expand
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Highly Cited
2004
Highly Cited
2004
Oculodentodigital syndrome (ODD; OMIM 164200) is a congenital disorder characterised by developmental abnormalities of the face… Expand
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Review
2003
Review
2003
PURPOSE To report cases of Blau syndrome with a CARD15/Nod2 mutation. DESIGN Observational and interventional case report… 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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Review
1994
Review
1994
  • D. Viljoen
  • Journal of medical genetics
  • 1994
  • Corpus ID: 41387423
Congenital contractural arachnodactyly (CCA) is an autosomal dominant disorder akin to, but usually less severe than, Marfan… Expand
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1983
1983
Our observations support the view of Millesi that camptodactyly is due to an imbalance between the flexor and extensor forces… Expand
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Highly Cited
1964
Highly Cited
1964
  • F. Gillespie
  • Archives of ophthalmology
  • 1964
  • Corpus ID: 43080200
In 1957 Meyer-Schwickerath, Gruterich, and Weyers1described two patients with a combination of microphthalmus, dental anomalies… Expand
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