Literature DB >> 8000751

Hereditary arthro-ophthalmopathy (Stickler syndrome): a diagnosis to consider in familial premature osteoarthritis.

A Rai1, P Wordsworth, J S Coppock, G C Zaphiropoulos, G R Struthers.   

Abstract

A number of factors contribute to the pathogenesis of osteoarthritis. Genetic factors are predominant in some cases, including the syndrome of hereditary arthro-ophthalmopathy. The clinical features of the syndrome and the concept of genetic mutations in matrix components are discussed.

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Year:  1994        PMID： 8000751     DOI： 10.1093/rheumatology/33.12.1175

Source DB:  PubMed          Journal:  Br J Rheumatol        ISSN： 0263-7103


  5 in total

Review 1.  Clinical and Molecular genetics of Stickler syndrome.

Authors:  M P Snead; J R Yates
Journal:  J Med Genet       Date:  1999-05       Impact factor: 6.318

Review 2.  Stickler syndrome, ocular-only variants and a key diagnostic role for the ophthalmologist.

Authors:  M P Snead; A M McNinch; A V Poulson; P Bearcroft; B Silverman; P Gomersall; V Parfect; A J Richards
Journal:  Eye (Lond)       Date:  2011-09-16       Impact factor: 3.775

3.  Inflammatory arthritis in children with osteochondrodysplasias.

Authors:  R Scuccimarri; E M Azouz; K N Duffy; F Fassier; C M Duffy
Journal:  Ann Rheum Dis       Date:  2000-11       Impact factor: 19.103

4.  Osteoarthritis at young age, a diagnostic challenge: a case of stickler syndrome.

Authors:  Isabelle de Wergifosse; Rene Westhovens
Journal:  Open Rheumatol J       Date:  2014-12-19

Review 5.  Hearing impairment in Stickler syndrome: a systematic review.

Authors:  Frederic R E Acke; Ingeborg J M Dhooge; Fransiska Malfait; Els M R De Leenheer
Journal:  Orphanet J Rare Dis       Date:  2012-10-30       Impact factor: 4.123
  5 in total

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