Biallelic TOR1A mutations cause severe arthrogryposis: A case requiring reverse phenotyping
- 期刊名称European Journal of Medical Genetics
- 作者Isik, Esra; Aykut, Ayca; Atik, Tahir; Cogulu, Ozgur; Ozkinay, Ferda
- 印刷ISSN1769-7212
- 文件大小1183.24KB
- 发表时间2018-9
- DOI10.1016/j.ejmg.2018.09.011
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