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Progressive pseudorheumatoid dysplasia: a rare childhood disease.
Torreggiani S, Torcoletti M, Campos-Xavier B, Baldo F, Agostoni C, Superti-Furga A, Filocamo G. Torreggiani S, et al. Rheumatol Int. 2019 Mar;39(3):441-452. doi: 10.1007/s00296-018-4170-6. Epub 2018 Oct 16. Rheumatol Int. 2019. PMID: 30327864 Review.
Progressive pseudorheumatoid dysplasia (PPRD) is a genetic bone disorder characterised by the progressive degeneration of articular cartilage that leads to pain, stiffness and joint enlargement. ...
Progressive pseudorheumatoid dysplasia (PPRD) is a genetic bone disorder characterised by the progressive degeneration …
The diagnostic challenge of progressive pseudorheumatoid dysplasia (PPRD): a review of clinical features, radiographic features, and WISP3 mutations in 63 affected individuals.
Garcia Segarra N, Mittaz L, Campos-Xavier AB, Bartels CF, Tuysuz B, Alanay Y, Cimaz R, Cormier-Daire V, Di Rocco M, Duba HC, Elcioglu NH, Forzano F, Hospach T, Kilic E, Kuemmerle-Deschner JB, Mortier G, Mrusek S, Nampoothiri S, Obersztyn E, Pauli RM, Selicorni A, Tenconi R, Unger S, Utine GE, Wright M, Zabel B, Warman ML, Superti-Furga A, Bonafé L. Garcia Segarra N, et al. Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):217-29. doi: 10.1002/ajmg.c.31333. Epub 2012 Jul 12. Am J Med Genet C Semin Med Genet. 2012. PMID: 22791401 Review.
Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non-inflammatory arthropathy caused by recessive loss of function mutations in WISP3 (Wnt1-inducible signaling pathway protein 3; MIM 603400), encoding for a signaling protein. ...
Progressive pseudorheumatoid dysplasia (PPRD) is a genetic, non-inflammatory arthropathy caused by recessive loss of fu …
Progressive pseudorheumatoid dysplasia: a report of three cases and a review of radiographic and magnetic resonance imaging findings.
Pomeranz CB, Reid JR. Pomeranz CB, et al. Skeletal Radiol. 2019 Sep;48(9):1323-1328. doi: 10.1007/s00256-019-3165-z. Epub 2019 Feb 2. Skeletal Radiol. 2019. PMID: 30712121 Review.
Progressive pseudorheumatoid dysplasia (PPD) is a rare disorder of postnatal skeletal and cartilage development that often presents with similar clinical findings to juvenile idiopathic arthritis. ...
Progressive pseudorheumatoid dysplasia (PPD) is a rare disorder of postnatal skeletal and cartilage development that of …
Progressive pseudorheumatoid dysplasia: report of a family and review.
el-Shanti HE, Omari HZ, Qubain HI. el-Shanti HE, et al. J Med Genet. 1997 Jul;34(7):559-63. doi: 10.1136/jmg.34.7.559. J Med Genet. 1997. PMID: 9222963 Free PMC article. Review.
Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with radiographic changes notably in the spine, similar to spondyloepiphyseal dysplasia tarda. ...
Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with radiographic changes notably in the spin …
Progressive pseudorheumatoid dysplasia involving a novel WISP3 mutation and sacroiliac and hip arthritis: A case report and literature review.
Wang W, Xiao G, Han Q, Ding J, Xie R, Jia J, Leng N, Zheng Z. Wang W, et al. Medicine (Baltimore). 2023 Jul 7;102(27):e34099. doi: 10.1097/MD.0000000000034099. Medicine (Baltimore). 2023. PMID: 37417608 Free PMC article. Review.
INTRODUCTION: Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive genetic disease caused by mutations in the Wnt1-inducible signaling pathway protein 3 gene. ...
INTRODUCTION: Progressive pseudorheumatoid dysplasia (PPRD) is a rare autosomal recessive genetic disease caused by mut …
The CCN proteins: important signaling mediators in stem cell differentiation and tumorigenesis.
Zuo GW, Kohls CD, He BC, Chen L, Zhang W, Shi Q, Zhang BQ, Kang Q, Luo J, Luo X, Wagner ER, Kim SH, Restegar F, Haydon RC, Deng ZL, Luu HH, He TC, Luo Q. Zuo GW, et al. Histol Histopathol. 2010 Jun;25(6):795-806. doi: 10.14670/HH-25.795. Histol Histopathol. 2010. PMID: 20376786 Free PMC article. Review.
CCN4, CCN5 and CCN6 usually inhibit cell growth. Mutations of Ccn6 are associated with the progressive pseudorheumatoid dysplasia and spondyloepiphyseal dysplasia tarda. ...
CCN4, CCN5 and CCN6 usually inhibit cell growth. Mutations of Ccn6 are associated with the progressive pseudorheumatoid dys …
Non-collagenic etiologies of muscle weakness with joint deformities: about two paradigmatic case reports.
Urtizberea JA, Thambyayah M, Nishino I, Megarbane A. Urtizberea JA, et al. Acta Myol. 2005 Oct;24(2):78-9. Acta Myol. 2005. PMID: 16550920 Review.
We report here two paradigmatic cases in which we found mutations in two novel genes corresponding to two newly described entities (progressive pseudorheumatoid dysplasia, PPD, and infantile systemic hyalinosis, ISH) both conditions in which the clinical pict …
We report here two paradigmatic cases in which we found mutations in two novel genes corresponding to two newly described entities (progr …