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Spranger J, Beighton P, Giedion A, Gorlin R, Hall J, Horton B, et al. International Working Group on Constitutional Diseases of Bone. Eur J Pediatr. 1992; 151(6): 407-415.SprangerJBeightonPGiedionAGorlinRHallJHortonBet alInternational Working Group on Constitutional Diseases of BoneEur J Pediatr1992151640741510.1007/BF01959352Search in Google Scholar
Lee HS, Doh JW, Kim CJ, Chi JG. Achondrogenesis type II (Langer-Saldino achondrogenesis): A case report. J Korean Med Sci. 2000; 15(5): 604-608.10.3346/jkms.2000.15.5.60411069003LeeHSDohJWKimCJChiJGAchondrogenesis type II (Langer-Saldino achondrogenesis): A case reportJ Korean Med Sci2000155604608305468411069003Open DOISearch in Google Scholar
Swar MO, Srikrishna BV. Achondrogenesis type II (Langer-Saldino) – A case report. Afr J Med Sci. 1995; 24(3): 297-299.SwarMOSrikrishnaBVAchondrogenesis type II (Langer-Saldino) – A case reportAfr J Med Sci1995243297299Search in Google Scholar
Forzano F, Lituania M, Viassolo A, Superti-Furga V, Wildhardt G, Zabel B, et al. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father. Am J Med Genet A. 2007; 143 A(23): 2815-2820.ForzanoFLituaniaMViassoloASuperti-FurgaVWildhardtGZabelBet alA familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic fatherAm J Med Genet A2007143 A232815282010.1002/ajmg.a.3204717994563Search in Google Scholar
Robinson JT, Thorvaldósdttir H, Winckler W, Guttman M, Lander ES, Getz G, et al. Integrative genomics viewer. Nat Biotechnol. 2011; 29(1): 24-26.2122109510.1038/nbt.1754RobinsonJTThorvaldósdttirHWincklerWGuttmanMLanderESGetzGet alIntegrative genomics viewerNat Biotechnol20112912426334618221221095Search in Google Scholar
Gormez Z, Bakir-Gungor B, Sagiroglu MS. HomSI: Ahomozygous stretch identifier from next-generation sequencing data. Bioinformatics. 2014; 30(3): 445-447.10.1093/bioinformatics/btt686GormezZBakir-GungorBSagirogluMSHomSI: Ahomozygous stretch identifier from next-generation sequencing dataBioinformatics201430344544724307702Open DOISearch in Google Scholar
Zhou X, Chandler N, Deng L, Zhou J, Yuan M, Sun L. Prenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panel. Prenat Diagn. 2018; 38(9): 692-699.10.1002/pd.529829907962ZhouXChandlerNDengLZhouJYuanMSunLPrenatal diagnosis of skeletal dysplasias using a targeted skeletal gene panelPrenat Diagn201838969269929907962Open DOISearch in Google Scholar
Terhal PA, van Dommelen P, Le Merrer M, Zankl A, Simon ME, Smithson SF, et al. Mutation-based growth charts for SEDC and other COL2A1 related dysplasias. Am J Med Genet C Semin Med Genet. 2012; 160C(3): 205-216.10.1002/ajmg.c.3133222791362TerhalPAvanDommelen PLeMerrer MZanklASimonMESmithsonSFet alMutation-based growth charts for SEDC and other COL2A1 related dysplasiasAm J Med Genet C Semin Med Genet2012160C320521622791362Open DOISearch in Google Scholar
Rauch F, Lalic L, Roughley P, Glorieux FH. Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I. Eur J Hum Genet. 2010; 18(6): 642-647.10.1038/ejhg.2009.24220087402RauchFLalicLRoughleyPGlorieuxFHGenotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type IEur J Hum Genet2010186642647298733820087402Open DOISearch in Google Scholar
Terhal PA, Nievelstein RJ, Verver EJ, Topsakal V, van Dommelen P, Hoornaert K, et al. A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype. Am J Med Genet A. 2015; 167A(3): 461-475.TerhalPANievelsteinRJVerverEJTopsakalVvanDommelen PHoornaertKet alA study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotypeAm J Med Genet A2015167A346147510.1002/ajmg.a.3692225604898Search in Google Scholar
Barat-Houari M, Sarrabay G, Gatinois V, Fabre A, Dumont B, Genevieve D, et al. Mutation update for COL2A1 gene variants associated with type II collagenopathies. Hum Mutat. 2016; 37(1): 7-15.10.1002/humu.2291526443184Barat-HouariMSarrabayGGatinoisVFabreADumontBGenevieveDet alMutation update for COL2A1 gene variants associated with type II collagenopathiesHum Mutat201637171526443184Open DOISearch in Google Scholar
Kannu Ρ, Irving Μ, Aftimos S, Savarirayan R. Two novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentation. Clin Orthop Relat Res. 2011; 469(6): 1785-1790.10.1007/s11999-011-1850-x21442341KannuΡIrvingΜAftimosSSavarirayanRTwo novel COL2A1 mutations associated with a Legg-Calvé-Perthes disease-like presentationClin Orthop Relat Res2011469617851790309460821442341Open DOISearch in Google Scholar
Vanegas S, Sua LF, López-Tenorio J, Ramírez-Montaño D, Pachajoa H. Achondrogenesis type IA: Clinical, histologic, molecular, and prenatal ultrasound diagnosis. Appl Clin Genet. 2018; 11: 69-73.10.2147/TACG.S15723529872333VanegasSSuaLFLópez-TenorioJRamírez-MontañoDPachajoaHAchondrogenesis type IA: Clinical, histologic, molecular, and prenatal ultrasound diagnosisAppl Clin Genet2018116973597332029872333Open DOISearch in Google Scholar
Eyre DR, Upton MP, Shapiro FD, Wilkinson RH, Vawter GF. Nonexpression of cartilage type II collagen in a case of Lander-Saldino achondrogenesis. Am J Hum Genet. 1986; 39(1): 52-67.EyreDRUptonMPShapiroFDWilkinsonRHVawterGFNonexpression of cartilage type II collagen in a case of Lander-Saldino achondrogenesisAm J Hum Genet19863915267Search in Google Scholar
