Article
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia.
Nature genetics - 1 Sept 1999
Hurvitz J R, Suwairi W M, Van Hul W, El-Shanti H, Superti-Furga A, Roudier J, Holderbaum D, Pauli R M, Herd J K, Van Hul E V, Rezai-Delui H, Legius E, Le Merrer M, Al-Alami J, Bahabri S A, Warman M L
Abstract excerpt
Members of the CCN (for CTGF, cyr61/cef10, nov) gene family encode cysteine-rich secreted proteins with roles in cell growth and differentiation. Cell-specific and tissue-specific differences in the expression and function of different CCN family members suggest they have non-redundant roles. Using a positional-candidate approach, we found that mutations in the CCN family member WISP3 are associated with the...
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