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Specific early signs and long-term follow-up findings of progressive pseudorheumatoid dysplasia (PPRD) in the Turkish cohort.
Uludağ Alkaya D, Kasapçopur Ö, Bursalı A, Adrovic A, Demir B, Aykut A, Tüysüz B. Uludağ Alkaya D, et al. Rheumatology (Oxford). 2022 Aug 30;61(9):3693-3703. doi: 10.1093/rheumatology/keab926. Rheumatology (Oxford). 2022. PMID: 34919662
OBJECTIVES: Progressive pseudorheumatoid dysplasia (PPRD) is a spondyloepiphyseal dysplasia caused by biallelic variants in CCN6. ...
OBJECTIVES: Progressive pseudorheumatoid dysplasia (PPRD) is a spondyloepiphyseal dysplasia caused by biallelic variant …
Unique mutation spectrum of progressive pseudorheumatoid dysplasia in the Chinese population: a retrospective genotype-phenotype analysis of 105 patients.
Wang W, Gao SH, Wei M, Zhong LQ, Liu W, Jian S, Xiao J, Zhang CH, Zhang JG, Zeng XF, Xia WB, Qiu ZQ, Song HM. Wang W, et al. World J Pediatr. 2023 Jul;19(7):674-686. doi: 10.1007/s12519-022-00674-7. Epub 2023 Jan 9. World J Pediatr. 2023. PMID: 36622578 Free PMC article.
BACKGROUND: Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic disease with autosomal recessive inheritance. ...
BACKGROUND: Progressive pseudorheumatoid dysplasia (PPRD) is a rare genetic disease with autosomal recessive inheritanc …
A retrospective study of nine patients with progressive pseudorheumatoid dysplasia: to explore early diagnosis and further treatment.
Yin L, Mao Y, Zhou Y, Shen Y, Chen H, Zhou W, Jin Y, Huang H, Yu Y, Wang J. Yin L, et al. Clin Rheumatol. 2022 Mar;41(3):877-888. doi: 10.1007/s10067-021-05959-2. Epub 2021 Oct 21. Clin Rheumatol. 2022. PMID: 34674084
OBJECTIVES: Most patients with progressive pseudorheumatoid dysplasia (PPRD) are initially misdiagnosed because of disease rarity and lack of awareness by most clinicians. ...
OBJECTIVES: Most patients with progressive pseudorheumatoid dysplasia (PPRD) are initially misdiagnosed because of dise …
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 …
Mid-Term Outcome of Total Hip Arthroplasty in Patients With Progressive Pseudorheumatoid Dysplasia.
Feng B, Xiao K, Ren Y, Xia Z, Jin J, Wu Z, Qiu G, Weng X. Feng B, et al. J Clin Rheumatol. 2021 Jun 1;27(4):156-160. doi: 10.1097/RHU.0000000000001248. J Clin Rheumatol. 2021. PMID: 31876842
BACKGROUND: Progressive pseudorheumatoid dysplasia (PPD) is a rare disease that causes musculoskeletal deformities. ...
BACKGROUND: Progressive pseudorheumatoid dysplasia (PPD) is a rare disease that causes musculoskeletal deformities. ...
Progressive pseudorheumatoid dysplasia: three cases in one family.
Bennani L, Amine B, Ichchou L, Lazrak N, Hajjaj-Hassouni N. Bennani L, et al. Joint Bone Spine. 2007 Jul;74(4):393-5. doi: 10.1016/j.jbspin.2006.11.014. Epub 2007 May 25. Joint Bone Spine. 2007. PMID: 17596985
Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with autosomal recessive transmission. ...DISCUSSION: Progressive pseudorheumatoid dysplasia is an autosomal recessive disease characterized by abnormal cartilage h …
Progressive pseudorheumatoid dysplasia is an inherited skeletal dysplasia with autosomal recessive transmission. ...DIS …
The rare reason of pain in hip girdle: Mucolipidosis type 3 gamma.
Kolkıran A, Karaosmanoğlu B, Taşkıran ZE, Şimşek-Kiper PÖ, Utine GE. Kolkıran A, et al. Turk J Pediatr. 2021;63(6):1091-1096. doi: 10.24953/turkjped.2021.06.019. Turk J Pediatr. 2021. PMID: 35023661 Free article.
A novel homozygous missense variant in the exon 5 of GNPTG, c.316G > T, confirmed the diagnosis of ML- IIIgamma. Juvenile idiopathic arthritis (JIA), progressive pseudorheumatoid dysplasia (PPRD), ML-II, ML-IIIalphabeta, galactosialidosis and mucopolysacch …
A novel homozygous missense variant in the exon 5 of GNPTG, c.316G > T, confirmed the diagnosis of ML- IIIgamma. Juvenile idiopathic arth …
Progressive pseudorheumatoid dysplasia: report of a patient with symptoms present at birth.
van Buggenhout G, De Smet L, Maroteaux P, Fryns JP. van Buggenhout G, et al. Genet Couns. 1998;9(4):277-81. Genet Couns. 1998. PMID: 9894165
Progressive pseudorheumatoid dysplasia (spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDTPA) or progressive pseudorheumatoid arthropathy of childhood (PPAC) (MIM 208.230)) is an autosomal recessively inherited skeletal dysplasia with chang …
Progressive pseudorheumatoid dysplasia (spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDTPA) or pro …