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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.KruskalJBRichieJPSimple and complex renal cysts in adultsUpToDate. 2021. Available at https://www.uptodate.com/contents/simple-and-complex-renal-cysts-in-adults; date accessed: June 3 2021Search 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-SztulpaJWawrockaASwiader-LesniakASochaMJamsheerADrozdzDClinical and molecular genetic characterization of a male patient with Sensenbrenner syndrome (cranioectodermal dysplasia) and biallelic WDR35 mutationsBirth Defects Res2018110437638110.1002/bdr2.115129134781Search 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.BasileJBlochMJOverview of hypertension in adultsUpToDate. 2021. Available at https://www.uptodate.com/contents/search?search=overview-of-hypertension-in-adults; date accessed June 3 2021Search 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.orgOnline Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disordersupdated: 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.OzcanTPrenatal sonographic diagnosis of cystic renal diseaseUpToDate. 2021. Available at: https://www.uptodate.com/contents/prenatal-sonographic-diagnosis-of-cystic-renal-disease; date accessed: June 3 2021Search 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.ChenXGarcelonNNeurazABillotKLelargeMBonaldTPhenotyping similarity for rare disease: Ciliopathy diagnoses and subtypingJ Biomed Inform201910010330810.1016/j.jbi.2019.10330831622800Search 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.TorresVEBennettWMAutosomal dominant kidney disease (ADPKD) in adults: Epidemiology, clinical presentation; and diagnosisUpToDate. 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 2021Search 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-SztulpaJWawrockaALeszczynskaBMukulskaBArtsHHBukowska-OlechEPrenatal genetic diagnosis of cranioectodermal dysplasia in a Polish family with compound heterozygous variants in WDR35Am J Med Genet A2020182102417242510.1002/ajmg.a.6178532804427Search 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/.TanWLinAKeppler-NoreuilKCranioectodermal DysplasiaSeptember122013lsqb;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.AlazamiAMSeidahmedMZAlzahraniFMohammedAOAlkurayaFSNovel IFT122 mutation associated with impaired ciliogenesis and cranioectodermal dysplasiaMol Genet Genomic Med20142210310610.1002/mgg3.44396005124689072Search 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.ShifmanAChanannelIPrevalence of taurodontism found in radiographic dental examination of 1,200 young adult Israeli patientsCommunity Dent Oral Epidemiol19786420020310.1111/j.1600-0528.1978.tb01150.x278704Search 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.DaryaniDNairGRNaiduGDentin dysplasia type II: An exclusive report of two cases in siblingsJ Indian Acad Oral Med Radiol201729213213410.4103/jiaomr.JIAOMR_23_16Search 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.SharmaSDattaPSabharwalJRDattaSNance-Horan syndrome: A rare case reportContemp Clin Dent20178346947210.4103/ccd.ccd_232_17564400929042737Search 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-ZupanARousseauxMLaugelVSchmittbuhlMMathisRDesforgesEA possible cranio-oro-facial phenotype in Cockayne syndromeOrphanet J Rare Dis20138910.1186/1750-1172-8-9359937723311583Search 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-ForestierIGrosCZenatyDBennaceurSLegerJde RouxNDental agenesis in Kallmann syndrome individuals with FGFR1 mutationsInt J Paediatr Dent201020430531210.1111/j.1365-263X.2010.01056.x20536592Search 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.WongDRamachandraSSSinghAKDental management of patient with Williams Syndrome – A case reportContemp Clin Dent20156341842010.4103/0976-237X.161908454999926321847Search 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.MhanniAACrossHGChudleyAEKabuki syndrome: Description of dental findings in 8 patientsClin Genet199956215415710.1034/j.1399-0004.1999.560211.x10517254Search in Google Scholar