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Having Multiple Renal Cysts in a Young Adult is Not Always a Sign of Polycystic Kidney Disease


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Kruskal JB, Richie JP. Simple and complex renal cysts in adults. UpToDate. 2021. Available at https://www.uptodate.com/contents/simple-and-complex-renal-cysts-in-adults; date accessed: June 3 2021. KruskalJB RichieJP Simple and complex renal cysts in adults UpToDate. 2021. Available at https://www.uptodate.com/contents/simple-and-complex-renal-cysts-in-adults; date accessed: June 3 2021 Search in Google Scholar

Walczak-Sztulpa J, Wawrocka A, Swiader-Lesniak A, Socha M, Jamsheer A, Drozdz D, et al. Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations. Birth Defects Res. 2018; 110(4): 376–381. Walczak-SztulpaJ WawrockaA Swiader-LesniakA SochaM JamsheerA DrozdzD Clinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutations Birth Defects Res 2018 110 4 376 381 10.1002/bdr2.115129134781 Search in Google Scholar

Basile J, Bloch MJ. Overview of hypertension in adults. UpToDate. 2021. Available at https://www.uptodate.com/contents/search?search=overview-of-hypertension-in-adults; date accessed June 3 2021. BasileJ BlochMJ Overview of hypertension in adults UpToDate. 2021. Available at https://www.uptodate.com/contents/search?search=overview-of-hypertension-in-adults; date accessed June 3 2021 Search in Google Scholar

O’Neill MJF. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders, updated: February 6 2018; available at https://mirror.omim.org/. O’Neill MJF. OMIM.org Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders updated: February 6 2018; available at https://mirror.omim.org/ Search in Google Scholar

Ozcan T. Prenatal sonographic diagnosis of cystic renal disease. UpToDate. 2021. Available at: https://www.uptodate.com/contents/prenatal-sonographic-diagnosis-of-cystic-renal-disease; date accessed: June 3 2021. OzcanT Prenatal sonographic diagnosis of cystic renal disease UpToDate. 2021. Available at: https://www.uptodate.com/contents/prenatal-sonographic-diagnosis-of-cystic-renal-disease; date accessed: June 3 2021 Search in Google Scholar

Chen X, Garcelon N, Neuraz A, Billot K, Lelarge M, Bonald T, et al. Phenotyping similarity for rare disease: Ciliopathy diagnoses and subtyping. J Biomed Inform. 2019; 100: 103308. ChenX GarcelonN NeurazA BillotK LelargeM BonaldT Phenotyping similarity for rare disease: Ciliopathy diagnoses and subtyping J Biomed Inform 2019 100 103308 10.1016/j.jbi.2019.10330831622800 Search in Google Scholar

Torres VE, Bennett WM. Autosomal dominant kidney disease (ADPKD) in adults: Epidemiology, clinical presentation; and diagnosis. UpToDate. 2021. Available at: https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis; date accessed: June 3 2021. TorresVE BennettWM Autosomal dominant kidney disease (ADPKD) in adults: Epidemiology, clinical presentation; and diagnosis UpToDate. 2021. Available at: https://www.uptodate.com/contents/autosomal-dominant-polycystic-kidney-disease-adpkd-in-adults-epidemiology-clinical-presentation-and-diagnosis; date accessed: June 3 2021 Search in Google Scholar

BergMann C, Guay-Woodford LM, Harris PC, Horie S, Peters DJM, Torres VE. Polycystic kidney disease. Nat Rev Dis Primers. 2018; 4(1): 50. BergMannC Guay-WoodfordLM HarrisPC HorieS PetersDJM TorresVE Polycystic kidney disease Nat Rev Dis Primers 2018 4 1 50 10.1038/s41572-018-0047-y659204730523303 Search in Google Scholar

Walczak-Sztulpa J, Wawrocka A, Leszczynska B, Mukulska B, Arts HH, Bukowska-Olech E, et al. Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35. Am J Med Genet A. 2020; 182(10: 2417–2425. Walczak-SztulpaJ WawrockaA LeszczynskaB MukulskaB ArtsHH Bukowska-OlechE Prenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35 Am J Med Genet A 2020 182 10 2417 2425 10.1002/ajmg.a.6178532804427 Search in Google Scholar

Tan W, Lin A, Keppler-Noreuil K. Cranioectodermal Dysplasia. September 12 2013 [updated March 11 2021]. In: Adam MP, Ardinger HH, Pagon RA, et al., Editors. GeneReviews®. Seattle, WA, USA: University of Washington; 1993–2020. Available at: https:www.ncbi.nlm.nih.gov/books/NBK154635/. TanW LinA Keppler-NoreuilK Cranioectodermal Dysplasia September 12 2013 lsqb;updated March 11 2021]. In: Adam MP, Ardinger HH, Pagon RA, et al., Editors. GeneReviews®. Seattle, WA, USA: University of Washington; 1993–2020. Available at: https:www.ncbi.nlm.nih.gov/books/NBK154635/ Search in Google Scholar

Alazami AM, Seidahmed MZ, Alzahrani F, Mohammed AO, Alkuraya FS. Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia. Mol Genet Genomic Med. 2014; 2(2): 103–106. AlazamiAM SeidahmedMZ AlzahraniF MohammedAO AlkurayaFS Novel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasia Mol Genet Genomic Med 2014 2 2 103 106 10.1002/mgg3.44396005124689072 Search in Google Scholar

Shifman A, Chanannel I. Prevalence of taurodontism found in radiographic dental examination of 1,200 young adult Israeli patients. Community Dent Oral Epidemiol. 1978; 6(4): 200–203. ShifmanA ChanannelI Prevalence of taurodontism found in radiographic dental examination of 1,200 young adult Israeli patients Community Dent Oral Epidemiol 1978 6 4 200 203 10.1111/j.1600-0528.1978.tb01150.x278704 Search in Google Scholar

Daryani D, Nair GR, Naidu G. Dentin dysplasia type II: An exclusive report of two cases in siblings. J Indian Acad Oral Med Radiol. 2017; 29(2): 132–134. DaryaniD NairGR NaiduG Dentin dysplasia type II: An exclusive report of two cases in siblings J Indian Acad Oral Med Radiol 2017 29 2 132 134 10.4103/jiaomr.JIAOMR_23_16 Search in Google Scholar

Sharma S, Datta P, Sabharwal JR, Datta S. Nance-Horan syndrome: A rare case report. Contemp Clin Dent. 2017; 8(3): 469–472. SharmaS DattaP SabharwalJR DattaS Nance-Horan syndrome: A rare case report Contemp Clin Dent 2017 8 3 469 472 10.4103/ccd.ccd_232_17564400929042737 Search in Google Scholar

Bloch-Zupan A, Rousseaux M, Laugel V, Schmittbuhl M, Mathis R, Desforges E, et al. A possible cranio-oro-facial phenotype in Cockayne syndrome. Orphanet J Rare Dis. 2013;8: 9. Bloch-ZupanA RousseauxM LaugelV SchmittbuhlM MathisR DesforgesE A possible cranio-oro-facial phenotype in Cockayne syndrome Orphanet J Rare Dis 2013 8 9 10.1186/1750-1172-8-9359937723311583 Search in Google Scholar

Bailleul-Forestier I, Gros C, Zenaty D, Bennaceur S, Leger J, de Roux N. Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. Int J Paediatr Dent. 2010; 20(4): 305–312. Bailleul-ForestierI GrosC ZenatyD BennaceurS LegerJ de RouxN Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations Int J Paediatr Dent 2010 20 4 305 312 10.1111/j.1365-263X.2010.01056.x20536592 Search in Google Scholar

Wong D, Ramachandra SS, Singh AK. Dental management of patient with Williams Syndrome – A case report. Contemp Clin Dent. 2015; 6(3): 418–420. WongD RamachandraSS SinghAK Dental management of patient with Williams Syndrome – A case report Contemp Clin Dent 2015 6 3 418 420 10.4103/0976-237X.161908454999926321847 Search in Google Scholar

Mhanni AA, Cross HG, Chudley AE. Kabuki syndrome: Description of dental findings in 8 patients. Clin Genet. 1999; 56(2): 154–157. MhanniAA CrossHG ChudleyAE Kabuki syndrome: Description of dental findings in 8 patients Clin Genet 1999 56 2 154 157 10.1034/j.1399-0004.1999.560211.x10517254 Search in Google Scholar

eISSN:
1311-0160
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Angielski
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Medicine, Basic Medical Science, other