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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

Related topics

Related topics

10 relations
Chondrodysplasia Punctata, RhizomelicConnective Tissue DiseasesConnective and Soft TissueEhlers-Danlos Syndrome

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular… 
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… 
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… 
Review
2007
Review
2007
Hypermobility and the hypermobility syndrome.
Review
2005
Review
2005
Delving into the diversity of facultative heterochromatin: the epigenetics of the inactive X chromosome.
Highly Cited
1998
Highly Cited
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… 
Highly Cited
1996
Highly Cited
1996
Mutant fibrillin-1 monomers lacking EGF-like domains disrupt microfibril assembly and cause severe marfan syndrome.
Marfan syndrome (MFS), a heritable connective tissue disorder, is caused by mutations in the gene coding for fibrillin-1 (FBN1… 
Highly Cited
1994
Highly Cited
1994
Delayed triple helix formation of mutant collagen from patients with osteogenesis imperfecta.
The kinetics of triple helix formation of procollagen I were measured in normal human fibroblast cultures and cell strains from… 
Highly Cited
1982
Highly Cited
1982
Abnormal copper metabolism and deficient lysyl oxidase activity in a heritable connective tissue disorder.
Biochemical abnormalities were studied in two brothers with bladder divericulas, inguinal hernias, slight skin laxity, and… 
Highly Cited
1971
Highly Cited
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… 
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