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Quoted phrase not found in phrase index: "Cranioectodermal dysplasia 3"
Page 1
Skeletal ciliopathies: a pattern recognition approach.
Handa A, Voss U, Hammarsjö A, Grigelioniene G, Nishimura G. Handa A, et al. Jpn J Radiol. 2020 Mar;38(3):193-206. doi: 10.1007/s11604-020-00920-w. Epub 2020 Jan 21. Jpn J Radiol. 2020. PMID: 31965514 Review.
WDR35 variants in a cranioectodermal dysplasia patient with early onset end-stage renal disease and retinal dystrophy.
Walczak-Sztulpa J, Wawrocka A, Sikora W, Pawlak M, Bukowska-Olech E, Kopaczewski B, Urzykowska A, Arts HH, Gotz-Więckowska A, Grenda R, Latos-Bieleńska A, Glazar R. Walczak-Sztulpa J, et al. Am J Med Genet A. 2022 Oct;188(10):3071-3077. doi: 10.1002/ajmg.a.62903. Epub 2022 Jul 25. Am J Med Genet A. 2022. PMID: 35875935
Cranioectodermal dysplasia (CED) is rare heterogeneous condition. It belongs to a group of disorders defined as ciliopathies and is associated with defective cilia function and structure. ...The patient presented early-onset chronic kidney disease and was transplant …
Cranioectodermal dysplasia (CED) is rare heterogeneous condition. It belongs to a group of disorders defined as ciliopathies a …
Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35.
Walczak-Sztulpa J, Wawrocka A, Leszczynska B, Mikulska B, Arts HH, Bukowska-Olech E, Daniel M, Krawczynski MR, Latos-Bielenska A, Obersztyn E. Walczak-Sztulpa J, et al. Am J Med Genet A. 2020 Oct;182(10):2417-2425. doi: 10.1002/ajmg.a.61785. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32804427
Cilia are organelles that project from the surface of many cell types and play an important role during prenatal and postnatal human development. Cranioectodermal dysplasia (Sensenbrenner syndrome, CED) is a ciliopathy primarily characterized by craniofacial, skelet …
Cilia are organelles that project from the surface of many cell types and play an important role during prenatal and postnatal human develop …
Identification of five novel genetic loci related to facial morphology by genome-wide association studies.
Cha S, Lim JE, Park AY, Do JH, Lee SW, Shin C, Cho NH, Kang JO, Nam JM, Kim JS, Woo KM, Lee SH, Kim JY, Oh B. Cha S, et al. BMC Genomics. 2018 Jun 19;19(1):481. doi: 10.1186/s12864-018-4865-9. BMC Genomics. 2018. PMID: 29921221 Free PMC article.
The OSR1-WDR35 [rs7567283, G allele, beta (se) = -0.536 (0.096), P = 2.75 10(- 8)] locus was associated with the facial frontal contour; the HOXD1-MTX2 [rs970797, A allele, beta (se) = 0.015 (0.003), P = 3.97 10(- 9)] and WDR27 [rs3736712, C allele, beta (se) = 0.293 (0.04 …
The OSR1-WDR35 [rs7567283, G allele, beta (se) = -0.536 (0.096), P = 2.75 10(- 8)] locus was associated with the facial frontal contour; the …