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… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1976-2018
024619762018

Papers overview

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2010
2010
A three-generation family with four patients affected by a novel mesomelic dysplasia was investigated for genome-wide DNA copy… (More)
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2007
2007
We present the clinical and molecular characteristics of a multi-generation family in which the proband presented with clinical… (More)
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2004
2004
We present the clinical and radiographic findings in a mother and son with a dominantly inherited mesomelic skeletal dysplasia… (More)
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2003
2003
Mesomelic dysplasia type Werner is defined by absence of tibiae and preaxial polysyndactyly of hands and feet. Occasional… (More)
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2002
2002
The SHOX (short-stature homeobox-containing) gene encodes isoforms of a homeodomain transcription factor important in human limb… (More)
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2002
2002
We report the clinical and molecular analysis in a consanguineous family in which the skeletal dysplasias Léri-Weill… (More)
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2002
2002
Mesomelic dysplasia is a severe shortening of forearms and forelegs, and is found in several distinct human syndromes. Here, we… (More)
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2000
2000
We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic… (More)
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Highly Cited
1998
Highly Cited
1998
Dyschondrosteosis1 (DCS) is an autosomal dominant2 form of mesomelic dysplasia with deformity of the forearm (Madelung deformity… (More)
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1982
1982
Two unrelated girls presented the identical clinical and radiological findings of shortened middle limb segments, slight punctate… (More)
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