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Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1787994622

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

About this item

Full title

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

Journal title

Human genetics, 2016-05, Vol.135 (5), p.525-540

Language

English

Formats

Publication information

Publisher

Berlin/Heidelberg: Springer Berlin Heidelberg

More information

Scope and Contents

Contents

Ehlers–Danlos syndrome (EDS) describes a group of clinical entities in which the connective tissue, primarily that of the skin, joint and vessels, is abnormal, although the resulting clinical manifestations can vary widely between the different historical subtypes. Many cases of hereditary disorders of connective tissue that do not seem to fit thes...

Alternative Titles

Full title

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_proquest_miscellaneous_1787994622

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1787994622

Other Identifiers

ISSN

0340-6717

E-ISSN

1432-1203

DOI

10.1007/s00439-016-1660-z

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