Hereditary disorders of connective tissue: a review

CC Klett, RF Diegelmann - Wound Repair and Regeneration, 1997 - Wiley Online Library
… This article reviews these various connective tissue disorders, describes the underlying …
on tissue repair, (WOUND REP REG 1997;5:3-11) The heritable disorders of connective tissue

[HTML][HTML] Hereditary disorders of connective tissue: a guide to the emerging differential diagnosis

M Murphy-Ryan, A Psychogios, NM Lindor - Genetics in Medicine, 2010 - Elsevier
… these disorders, and recent reviews have compared clinical features of subsets of the … the
key clinical and genetic features of heritable disorders of connective tissue. Marfan syndrome …

An acquired or heritable connective tissue disorder? A review of hypermobile Ehlers Danlos Syndrome

A Martin - European Journal of Medical Genetics, 2019 - Elsevier
… for heritable connective tissue disorders and or acquired musculoskeletal conditions without
a … Joint hypermobility and the heritable disorders of connective tissue: clinical and empirical …

Joint hypermobility and skin elasticity: the hereditary disorders of connective tissue

AJ Hakim, A Sahota - Clinics in dermatology, 2006 - Elsevier
… the clinician to search for underlying hereditary disorders of connective tissues. In this article,
we … , and genetic screening of the more common hereditary disorders of connective tissues, …

[PDF][PDF] Heritable disorders of connective tissue.

L JS - Proceedings of the Royal Society of Medicine, 1960 - europepmc.org
In 1896 Antoine Marfan described a musculoskeletal disorder in a 5-year-old girl producing
excessive lengthening and slenderness of the arms and legs. The fingers were flexed by …

The heritable disorders of connective tissue: epidemiology, nosology and clinical features

AJ Hakim, F Malfait, A De Paepe… - … fibromyalgia and chronic …, 2010 - books.google.com
… Important, however, is the realization that JHM may provide the first insight as to the presence
of one of the heritable disorders of connective tissue (HDCT). Further enquiry may reveal …

Hereditary disorders of connective tissue

D Wise - Vererbung von Hautkrankheiten, 1966 - Springer
… The disorders discussed in this chapter all affect the connective or supporting tissues of the
body. However, nearly all these diseases affect many systems of the body and could equally …

Diagnostics of hereditary connective tissue disorders by genetic next-generation sequencing

MK Pope, A Ratajska, H Johnsen… - Genetic testing and …, 2019 - liebertpub.com
… This study includes predictive genetic testing of relatives for a known family mutation, which
increases the likelihood of positive findings. In the present study, NGS analysis was offered …

Diversity in heritable disorders of connective tissue at a single center

RH Hsu, YH Chien, WL Hwu, NC Lee - Connective Tissue …, 2021 - Taylor & Francis
… Sixty-seven genes were selected through a review of the published literature for the diagnosis
of connective tissue diseases ( Table 2 ). Targeted capture was performed using SeqCap …

The genetics of soft connective tissue disorders

O Vanakker, B Callewaert, F Malfait… - … review of genomics and …, 2015 - annualreviews.org
Heritable connective tissue disorders comprise a wide range of pleiotropic diseases that
result from genetic … a significant proportion of human genetic diseases. They affect mainly the …