Hereditary Multiple Exostoses

Known as: Aclases, Diaphyseal, Osteochondromas, Multiple, CHONDRODYSPLASIA, HEREDITARY DEFORMING 
Hereditary disorder transmitted by autosomal dominant genes (EXT1-3) and characterized by multiple exostoses (multiple osteochondromas) near the ends… (More)
National Institutes of Health

Related topics

Related topics

29 relations
Autosomal dominant inheritanceCervical myelopathyConnective and Soft TissueDyschondroplasias
(More)

Narrower (9)

Chondrodysplasia, blomstrand typeChromosome 11p11.2 Deletion SyndromeDermochondrocorneal dystrophy of FrançoisDysplasia Epiphysealis Hemimelica with Chondromas and Osteochondromas
(More)

Broader (1)

Osteochondrodysplasias

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2008
Review
2008
Hereditary multiple exostoses and enchondromatosis.
Hereditary multiple exostoses (HME) is an autosomal-dominant disorder characterized by the development of benign tumours… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Review
2005
Review
2005
Manifestations of hereditary multiple exostoses.
The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2004
Highly Cited
2004
Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.
Genomic deletions and duplications play an important role in the etiology of human disease. Versatile tests are required to… (More)
Is this relevant?
Highly Cited
1996
Highly Cited
1996
Positional cloning of a gene involved in hereditary multiple exostoses.
Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses… (More)
  • figure 1
  • table 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Highly Cited
1996
Highly Cited
1996
The EXT2 multiple exostoses gene defines a family of putative tumour suppressor genes
Hereditary multiple exostoses (EXT) is an autosomal dominant condition characterized by short stature and the development of bony… (More)
Is this relevant?
Highly Cited
1995
Highly Cited
1995
Cloning of the putative tumour suppressor gene for hereditary multiple exostoses (EXT1)
Hereditary multiple exostoses is an autosomal dominant disorder that is characterized by short stature and multiple, benign bone… (More)
Is this relevant?
Highly Cited
1994
Highly Cited
1994
A gene for hereditary multiple exostoses maps to chromosome 19p.
Hereditary multiple exostoses (EXT) is an autosomal dominant bony disorder characterized by the formation of cartilage-capped… (More)
Is this relevant?
Highly Cited
1993
Highly Cited
1993
Genetic heterogeneity in families with hereditary multiple exostoses.
We have carried out a linkage analysis on 11 families segregating gene(s) for hereditary multiple exostoses (EXT). Four highly… (More)
Is this relevant?
Highly Cited
1991
Highly Cited
1991
Hereditary multiple exostoses.
Hereditary multiple exostoses (HME) is a skeletal disorder which primarily affects enchondral bone during growth. It is… (More)
  • figure I
  • table 2
Is this relevant?
1986
1986
Lengthening the ulna in patients with hereditary multiple exostoses.
Deformity of the forearm is common in patients with hereditary multiple exostoses, producing cosmetic and functional impairment… (More)
  • table I
  • table II
  • figure I
  • figure 8
  • figure 5
Is this relevant?