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[Prenatal phenotype and genetic analysis of a fetus with Fibrochondrogenesis 1 due to compound heterozygous variants of COL11A1 gene].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 May 10;41(5):601-605. doi: 10.3760/cma.j.cn511374-20231219-00341.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024.
PMID: 38684309
Chinese.
[Clinical characterization and genetic testing for a patient with creatine deficiency syndrome 1].
Xyu S, Xu C, Lyu Y, Li C, Liu C.
Xyu S, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022 Feb 10;39(2):213-215. doi: 10.3760/cma.j.cn511374-20201103-00773.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2022.
PMID: 35076923
Chinese.
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[Clinical feature and genetic analysis of a fetus with autosomal recessive polycystic kidney disease].
Xyu S, Xyu C, Lyu Y, Li C, Liu C.
Xyu S, et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Sep 10;38(9):880-883. doi: 10.3760/cma.j.cn511374-20200617-00447.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021.
PMID: 34487536
Chinese.
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