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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
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Related topics
Related topics
10 relations
Chondrodysplasia Punctata, Rhizomelic
Connective Tissue Diseases
Connective and Soft Tissue
Ehlers-Danlos Syndrome
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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
S. Morlino
,
M. Castori
,
+6 authors
M. Ritelli
European Journal of Human Genetics
2018
Corpus ID: 4716880
Heterozygous variants in MAP3K7, encoding the transforming growth factor-β-activated kinase 1 (TAK1), are associated with the…
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2014
2014
A89: The Relationship Between Benign Joint Hypermobility Syndrome and Developmental Coordination Disorders in Children
V. Easton
,
Peter Bale
,
H. Bacon
,
E. Jerman
,
K. Armon
,
A. Macgregor
2014
Corpus ID: 57792342
Benign joint hypermobility syndrome (BJHS) is a heritable connective tissue disorder, which is characterised by excessive joint…
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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…
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2012
2012
Patterns of nuclear genetic variation in the poecilogonous polychaete Streblospio benedicti.
M. Rockman
Integrative and Comparative Biology
2012
Corpus ID: 11874110
The evolution of marine larvae is replete with transitions in trophic mode, but little is known about how, at the genetic level…
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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.
J. Aalberts
,
A. Schuurman
,
+7 authors
J. P. van Tintelen
Netherlands Heart Journal
2010
Corpus ID: 19322249
Background/Methods. Marfan syndrome (MFS) is a heritable connective tissue disorder usually caused by a mutation in the fibrillin…
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2009
2009
Neuromuscular features in Marfan syndrome
N. Voermans
,
J. Timmermans
,
+7 authors
B. van Engelen
Clinical Genetics
2009
Corpus ID: 19789674
Marfan syndrome is a clinically and allelic heterogeneous, heritable connective tissue disorder with infrequently reported…
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2008
2008
Epigenetic mutations in CDKN2A in western Swedish families with hereditary malignant melanoma.
A. Erlandson
,
Frida Appelqvist
,
C. Enerbäck
Molecular Medicine Reports
2008
Corpus ID: 15070398
This study aimed to identify the molecular genetic variations associated with an increased risk of hereditary malignant melanoma…
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1997
1997
Prenatal diagnosis in congenital contractural arachnodactyly.
Susan Belleh
,
Linda Spooner
,
J. Allanson
,
M. Godfrey
Genetic Testing
1997
Corpus ID: 27339356
Congenital contractural arachnodactyly (CCA) is a heritable connective tissue disorder caused by defects in the gene encoding…
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1996
1996
Marfan's syndrome: a family affair.
David Strider
,
Terri Moore
,
Jane Guarini
,
Beth Fallin
,
Jan Ivey
,
Irving Kron
Journal of Vascular Nursing
1996
Corpus ID: 42277947
Review
1995
Review
1995
The bone cell biology of osteogenesis imperfecta.
N. Fedarko
,
U. Vetter
,
P. Robey
Connective Tissue Research
1995
Corpus ID: 2541000
Osteogenesis Imperfecta (OI) has been defined as a heritable connective tissue disorder with variable severity of clinical…
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