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Hearing impairment in Stickler syndrome: a systematic review

Hearing impairment in Stickler syndrome: a systematic review

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d2787e9f591f47a490660ae9d269717c

Hearing impairment in Stickler syndrome: a systematic review

About this item

Full title

Hearing impairment in Stickler syndrome: a systematic review

Publisher

England: BioMed Central Ltd

Journal title

Orphanet journal of rare diseases, 2012-10, Vol.7 (1), p.84-84

Language

English

Formats

Publication information

Publisher

England: BioMed Central Ltd

More information

Scope and Contents

Contents

Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial and auditory defects. It is caused by mutations in different collagen genes, namely COL2A1, COL11A1 and COL11A2 (autosomal dominant inheritance), and COL9A1 and COL9A2 (autosomal recessive inheritance). The auditory phenotype in Stickler syndrome is incon...

Alternative Titles

Full title

Hearing impairment in Stickler syndrome: a systematic review

Identifiers

Primary Identifiers

Record Identifier

TN_cdi_doaj_primary_oai_doaj_org_article_d2787e9f591f47a490660ae9d269717c

Permalink

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d2787e9f591f47a490660ae9d269717c

Other Identifiers

ISSN

1750-1172

E-ISSN

1750-1172

DOI

10.1186/1750-1172-7-84

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