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Article

WISP3, the gene responsible for the human skeletal disease progressive pseudorheumatoid dysplasia, is not essential for skeletal function in mice.

Molecular and cellular biology - 1 Jan 2005

Kutz Wendy E, Gong Yaoqin, Warman Matthew L

Abstract excerpt

In humans, loss-of-function mutations in WISP3 cause the autosomal recessive skeletal disease progressive pseudorheumatoid dysplasia (PPD) (Online Mendelian Inheritance in Man database number 208230). WISP3 encodes Wnt1-inducible signaling protein 3, a cysteine-rich, multidomain, secreted protein, whose paralogous CCN (connective tissue growth factor/cysteine-rich protein 61/nephroblastoma overexpressed) family...

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Identifiers

PMID: 15601861
DOI: 10.1128/MCB.25.1.414-421.2005
PMCID: PMC538768

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