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Page 1
Two novel TCTN2 mutations cause Meckel-Gruber syndrome.
Zhang M, Chang Z, Tian Y, Wang L, Lu Y. Zhang M, et al. Among authors: lu y. J Hum Genet. 2020 Nov;65(11):1039-1043. doi: 10.1038/s10038-020-0804-0. Epub 2020 Jul 12. J Hum Genet. 2020. PMID: 32655147 Free PMC article.
[Expert consensus on the genetic counseling for Dystrophinopathies].
Genetic Counseling Consensus Expert Group For Monogenic Disease Carrier Screening, Genetic Counseling Group Of Medical Genetics Branch Of Chinese Medical Association, Medical Genetics Branch Of Chinese Medical Doctor Association, Genetic Diagnosis And Precision Medicine Branch Of The Chinese Association Of Birth Health And Science, Liu X, Zhao Y, Wang H, Li-Ling J, Wu L, Lu Y, Chang Q. Genetic Counseling Consensus Expert Group For Monogenic Disease Carrier Screening, et al. Among authors: lu y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Jun 10;41(6):651-660. doi: 10.3760/cma.j.cn511374-20240122-00062. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024. PMID: 38818548 Chinese.
70 results