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

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Chondrodysplasia Punctata, RhizomelicConnective Tissue DiseasesConnective and Soft TissueEhlers-Danlos Syndrome
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Papers overview

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Highly Cited
2012
Highly Cited
2012
Ehlers-Danlos Syndrome, Hypermobility Type: An Underdiagnosed Hereditary Connective Tissue Disorder with Mucocutaneous, Articular, and Systemic Manifestations
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
Management of pain and fatigue in the joint hypermobility syndrome (a.k.a. Ehlers-Danlos syndrome, hypermobility type): principles and proposal for a multidisciplinary approach.
Joint hypermobility syndrome (JHS), or Ehlers-Danlos syndrome (EDS) hypermobility type (EDS-HT), is a underdiagnosed heritable… (More)
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2012
2012
Promotion of vesicular zinc efflux by ZIP13 and its implications for spondylocheiro dysplastic Ehlers-Danlos syndrome.
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
Delving into the diversity of facultative heterochromatin: the epigenetics of the inactive X chromosome.
  • 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
Association of cervical artery dissection with connective tissue abnormalities in skin and arteries.
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
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
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: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
Pseudoxanthoma elasticum (PXE), the prototypic heritable connective tissue disorder affecting the elastic structures in the body… (More)
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1998
1998
Heritable connective tissue disorders in cervical artery dissections: a prospective study.
We prospectively evaluated 15 consecutive patients with spontaneous cervical artery dissections. Three patients (20%) had a… (More)
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1997
1997
Intracranial aneurysms in Marfan's syndrome: an autopsy study.
OBJECTIVE Marfan's syndrome is a heritable connective tissue disorder that has been associated with intracranial aneurysms… (More)
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1971
1971
Procollagen peptidase: an enzyme excising the coordination peptides of procollagen.
A heritable connective tissue disorder of cattle, dermatosparaxis, is characterized by an extreme fragility of the skin and the… (More)
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