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Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene

✍ Scribed by El-Shanti, Hatem; Murray, Jeffrey C; Semina, Elena V; Beutow, Kenneth H; Scherpbier, Titia; Al-Alami, Jamil


Book ID
110024696
Publisher
Nature Publishing Group
Year
1998
Tongue
English
Weight
322 KB
Volume
6
Category
Article
ISSN
1018-4813

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A multiplex family with possible metaphy
✍ AndrΓ© MΓ©garbanΓ©; Eliane Chouery; Ismat Ghanem πŸ“‚ Article πŸ“… 2008 πŸ› John Wiley and Sons 🌐 English βš– 193 KB πŸ‘ 2 views

## Abstract We report a consanguineous Lebanese family where six individuals had disproportionate short stature, short limbs, and bilateral genu varum that were apparent after 2 years of age. Major radiographic features in infancy included flared, cupped, and ragged metaphyses of all long bones, de