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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.
2016
2016
Piezogenic Pedal Papules with Mitral Valve Prolapse
Piezogenic pedal papules (PPP) are herniations of subcutaneous adipose tissue into the dermis. PPP are skin-colored to yellowish… 
Review
2013
Review
2013
Joint hypermobility syndrome (a.k.a. Ehlers-Danlos Syndrome, Hypermobility Type): an updated critique.
  • M. Castori
  • Giornale italiano di dermatologia e venereologia…
  • 2013
  • Corpus ID: 25140496
Joint hypermobility syndrome, alternatively termed Ehlers-Danlos syndrome hypermobility type (JHS/EDS-HT), is likely the most… 
2012
2012
Patterns of nuclear genetic variation in the poecilogonous polychaete Streblospio benedicti.
The evolution of marine larvae is replete with transitions in trophic mode, but little is known about how, at the genetic level… 
2011
2011
Pachydermodactyly with mild features of heritable connective tissue disorder and no sign of emotional distress
An 18-year-old presented with chronic, indolent swelling of the fingers. He was right-handed. Over the past 3 years, he had… 
2010
2010
Recurrent and founder mutations in the Netherlands: Extensive clinical variability in Marfan syndrome patients with a single novel recurrent fibrillin-1 missense mutation.
Background/Methods. Marfan syndrome (MFS) is a heritable connective tissue disorder usually caused by a mutation in the fibrillin… 
2008
2008
Epigenetic mutations in CDKN2A in western Swedish families with hereditary malignant melanoma.
This study aimed to identify the molecular genetic variations associated with an increased risk of hereditary malignant melanoma… 
2007
2007
Coexisting pseudoxanthoma elasticum and lupus erythematosus: Report of two cases
Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder affecting the elastic structures in the body… 
2002
2002
Visual loss due to cerebral infarcts in pseudoxanthoma elasticum
Pseudoxanthoma elasticum (PXE) is a rare heritable connective tissue disorder with autosomal dominant or autosomal recessive… 
1996
1996
Marfan's syndrome: a family affair.
Review
1995
Review
1995
The bone cell biology of osteogenesis imperfecta.
Osteogenesis Imperfecta (OI) has been defined as a heritable connective tissue disorder with variable severity of clinical… 
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