Skip to search formSkip to main contentSkip to account menu

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.
2018
2018
A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder
Heterozygous variants in MAP3K7, encoding the transforming growth factor-β-activated kinase 1 (TAK1), are associated with the… 
2014
2014
A89: The Relationship Between Benign Joint Hypermobility Syndrome and Developmental Coordination Disorders in Children
Benign joint hypermobility syndrome (BJHS) is a heritable connective tissue disorder, which is characterised by excessive joint… 
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… 
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… 
2009
2009
Neuromuscular features in Marfan syndrome
Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported… 
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… 
1997
1997
Prenatal diagnosis in congenital contractural arachnodactyly.
Congenital contractural arachnodactyly (CCA) is a heritable connective tissue disorder caused by defects in the gene encoding… 
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… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)