Department of Pediatrics 2nd Faculty of Medicine Charles University Prague and University Hospital Motol Prague 5 150 06 Czech Republic

J Clin Endocrinol Metab. 2021 May 13;106(6):1742-1749. doi: 10.1210/clinem/dgab084. PubMed

J Clin Endocrinol Metab. 2022 Jan 1;107(1):e436-e437. doi: 10.1210/clinem/dgab664. PubMed

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Jee YH. Letter to the Editor from Youn Hee Jee: “Familial short stature–a novel phenotype of growth plate collagenopathies.” J Clin Endocrinol Metab. 2021. PubMed PMC

Plachy L, Dusatkova P, Maratova K, et al. . Familial short stature–a novel phenotype of growth plate collagenopathies. J Clin Endocrinol Metab. 2021;106(6):1742-1749. PubMed

Landrum MJ, Lee JM, Benson M, et al. . ClinVar: improving access to variant interpretations and supporting evidence. Nucleic Acids Res. 2018;46(D1):D1062-D1067. PubMed PMC

Xiang J, Yang J, Chen L, et al. . Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades. Sci Rep. 2020;10:331. PubMed PMC

Wright CF, Eberhardt RY, Constantinou P, Hurles ME, FitzPatrick DR, Firth HV; DDD Study. Evaluating variants classified as pathogenic in ClinVar in the DDD Study. Genet Med. 2021;23(3):571-575. PubMed PMC

Richards S, Aziz N, Bale S, et al. ; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-424. PubMed PMC

Barat-Houari M, Dumont B, Fabre A, et al. . The expanding spectrum of COL2A1 gene variants in 136 patients with a skeletal dysplasia phenotype. Eur J Hum Genet. 2016;24(7):992-1000. PubMed PMC

Oza AM, DiStefano MT, Hemphill SE, et al. ; ClinGen Hearing Loss Clinical Domain Working Group. Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss. Hum Mutat. 2018;39(11):1593-1613. PubMed PMC