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Mesomelic Dysplasia

A form of skeletal dysplasia characterized by shortening of the bones of the middle segments of the limbs (i.e., the radii, ulnae, tibiae and fibulae… Expand
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2007
2007
To the Editor: A disturbance in the long-range regulation of gene expression has been proposed as the cause of a number of… Expand
2007
2007
Mesomelic dysplasia is a heterogeneous group of constitutional bone diseases, and its classification remains incomplete and… Expand
2004
2004
Both parents of a female infant with mesomelic dysplasia, type Langer, showed signs of dyschondrosteosis. This further… Expand
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2004
2004
  • U. Burck
  • European Journal of Pediatrics
  • 2004
  • Corpus ID: 24216319
Two unrelated girls presented the identical clinical and radiological findings of shortened middle limb segments, slight punctate… Expand
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2003
2003
Mesomelic dysplasia type Werner is defined by absence of tibiae and preaxial polysyndactyly of hands and feet. Occasional… Expand
Highly Cited
2002
Highly Cited
2002
The SHOX (short-stature homeobox-containing) gene encodes isoforms of a homeodomain transcription factor important in human limb… Expand
2002
2002
Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we… Expand
Highly Cited
1998
Highly Cited
1998
Dyschondrosteosis1 (DCS) is an autosomal dominant2 form of mesomelic dysplasia with deformity of the forearm (Madelung deformity… Expand
1992
1992
A new type of mesomelic dysplasia was in 3 generations of a large Thai family. It is characterized by bilateral symmetrical… Expand
Review
1990
Review
1990
Mesomelic dysplasia is a form of short-limb dwarfism characterized by disproportionate shortness of the middle segment of all… Expand