Hereditary Connective Tissue Disorder

Known as: Connective Tissue Hereditary Disorder, heritable connective tissue disorder 
An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome.
National Institutes of Health

Papers overview

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Highly Cited
2012
Highly Cited
2012
Ehlers-Danlos syndrome, hypermobility type, constituting a phenotypic continuum with or, perhaps, corresponding to the joint… (More)
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Highly Cited
2012
Highly Cited
2012
Joint hypermobility syndrome (JHS), or Ehlers-Danlos syndrome (EDS) hypermobility type (EDS-HT), is a underdiagnosed heritable… (More)
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2012
2012
Zinc is essential but potentially toxic, so intracellular zinc levels are tightly controlled. A key strategy used by many… (More)
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Review
2005
Review
2005
  • Edith Heard
  • Current opinion in genetics & development
  • 2005
X chromosome inactivation represents one of the most dramatic examples of mono-allelic gene expression and long-term gene… (More)
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Review
2005
Review
2005
Spontaneous cervical artery dissections (sCAD) often occur in otherwise healthy individuals without known risk factors for stroke… (More)
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Review
2001
Review
2001
Pseudoxanthoma elasticum (PXE) is a relatively rare heritable disorder affecting the skin, eyes and cardiovascular system, with… (More)
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Highly Cited
2000
Highly Cited
2000
Pseudoxanthoma elasticum (PXE), the prototypic heritable connective tissue disorder affecting the elastic structures in the body… (More)
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1998
1998
We prospectively evaluated 15 consecutive patients with spontaneous cervical artery dissections. Three patients (20%) had a… (More)
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1997
1997
OBJECTIVE Marfan's syndrome is a heritable connective tissue disorder that has been associated with intracranial aneurysms… (More)
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1971
1971
A heritable connective tissue disorder of cattle, dermatosparaxis, is characterized by an extreme fragility of the skin and the… (More)
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