| Phenotype: | Arthropathy, progressive pseudorheumatoid, of childhood |
|---|---|
| Dna Change: | c.156C>A |
| Protein Change: | p.Cys52X |
| Mutation Type: | Substitution |
| Mutation Effect: | Missense |
| Location: | exon 3 |
| Transcript: | NM_003880.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Turkey | NA | NA | 3 patients/1 family | NA | Temiz F et al., 2011Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK, . A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.. J. Pediatr. Endocrinol. Metab.. 2011; 24(1):105-8 |
Temiz F, Ozbek MN, Kotan D, Sangun O, Mungan NO, Yuksel B, Topaloglu AK, A homozygous recurring mutation in WISP3 causing progressive pseudorheumatoid arthropathy.J. Pediatr. Endocrinol. Metab.. 2011; 24(1):105-8