Literature DB >> 9605591

A large family with multiple epiphyseal dysplasia linked to COL9A2 gene.

J B van Mourik1, B C Hamel, E C Mariman.   

Abstract

We describe a large family, including 54 affected individuals, with multiple epiphyseal dysplasia (MED) with involvement of the peripheral joints only. In this family, a mutation in the COL9A2 gene was detected. Every affected person has involvement of the knee joints. Other involved joints are the elbow, ankle, wrist, hand, and feet joints. Involvement of the shoulder or hip joints is never seen after adolescence. The height of the affected individuals is short to normal; spinal involvement is never seen. The penetrance of the gene is complete. However, the expression of the gene is highly variable.

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Year:  1998        PMID： 9605591     DOI： 10.1002/(sici)1096-8628(19980518)77:3<234::aid-ajmg9>3.3.co;2-#

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  9 in total

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2.  COL9A3: A third locus for multiple epiphyseal dysplasia.

Authors:  P Paassilta; J Lohiniva; S Annunen; J Bonaventure; M Le Merrer; L Pai; L Ala-Kokko
Journal:  Am J Hum Genet       Date:  1999-04       Impact factor: 11.025

3.  Identification of novel pro-alpha2(IX) collagen gene mutations in two families with distinctive oligo-epiphyseal forms of multiple epiphyseal dysplasia.

Authors:  P Holden; E G Canty; G R Mortier; B Zabel; J Spranger; A Carr; M E Grant; J A Loughlin; M D Briggs
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

4.  Multiple epiphyseal dysplasia.

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6.  Early Osteoarthritis and Double-Layered Patella in a Patient With Multiple Epiphyseal Dysplasia.

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Journal:  Arch Rheumatol       Date:  2017-07-27       Impact factor: 1.472

7.  Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution.

Authors:  Gail C Jackson; Laureane Mittaz-Crettol; Jacqueline A Taylor; Geert R Mortier; Juergen Spranger; Bernhard Zabel; Martine Le Merrer; Valerie Cormier-Daire; Christine M Hall; Amaka Offiah; Michael J Wright; Ravi Savarirayan; Gen Nishimura; Simon C Ramsden; Rob Elles; Luisa Bonafe; Andrea Superti-Furga; Sheila Unger; Andreas Zankl; Michael D Briggs
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Review 8.  The role of structural genes in the pathogenesis of osteoarthritic disorders.

Authors:  Anthony M Reginato; Bjorn R Olsen
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9.  The developmental impacts of natural selection on human pelvic morphology.

Authors:  Mariel Young; Daniel Richard; Mark Grabowski; Benjamin M Auerbach; Bernadette S de Bakker; Jaco Hagoort; Pushpanathan Muthuirulan; Vismaya Kharkar; Helen K Kurki; Lia Betti; Lyena Birkenstock; Kristi L Lewton; Terence D Capellini
Journal:  Sci Adv       Date:  2022-08-17       Impact factor: 14.957
  9 in total

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