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Ballo R, Briggs MD, Cohn DH, Knowlton RG, Beighton PH, Ramesar RS (1997): Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family. Am J Med Genet 68:396-400.

✍ Scribed by Arch, E. M.; Goodman, B. K.; Wesep, R.A. Van; Liaw, D.; Clarke, K.; Parsons, R.; McKusick, V. A.; Geraghty, M. T.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 2 KB
Volume: 71
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970905)71:4<494::aid-ajmg25>3.0.co;2-a

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Multiple epiphyseal dysplasia, ribbing t

Multiple epiphyseal dysplasia, ribbing type: A novel point mutation in the COMP gene in a South African family

✍ Ballo, Robea; Briggs, Michael D.; Cohn, Daniel H.; Knowlton, Robert G.; Beighton 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 214 KB 👁 1 views

Multiple epiphyseal dysplasia is broadly categorised into the more severe Fairbank and the milder Ribbing types. In this paper we document mild MED in a South African kindred, and demonstrate that heterozygosity for a mutation in the cartilage oligomeric matrix protein (COMP) gene causes the conditi