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[Clinical and genetic characteristics of 9 rare cases with coexistence of dual genetic diagnoses].
Tan DD, Liu YD, Fan YB, Wei CJ, Song DY, Yang HP, Pan H, Cui WL, Mao SS, Xu XP, Yu XL, Cui B, Xiong H. Tan DD, et al. Zhonghua Er Ke Za Zhi. 2023 Apr 2;61(4):345-350. doi: 10.3760/cma.j.cn112140-20220922-00827. Zhonghua Er Ke Za Zhi. 2023. PMID: 37011981 Chinese.
Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: Clinical and genetic data of pediatric patients with DGD from January 2021 to February 2022 in Peking University First Hospital we …
Objective: To analyze the clinical and genetic characteristics of pediatric patients with dual genetic diagnoses (DGD). Methods: C …
[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].
Yang CJ, Wang S, Tan DD, Liu YD, Fan YB, Wei CJ, Song DY, Zhu Y, Xiong H. Yang CJ, et al. Zhonghua Er Ke Za Zhi. 2023 Feb 2;61(2):154-158. doi: 10.3760/cma.j.cn112140-20220714-00646. Zhonghua Er Ke Za Zhi. 2023. PMID: 36720598 Chinese.
Objective: To investigate the clinical features and gene variation characteristics of children with dynein cytoplasmic 1 heavy chain 1 (DYNC1H1) gene associated spinal muscular atrophy with lower extremity predominant (SMALED) 1. Methods: The clinical data of 4 SMAL …
Objective: To investigate the clinical features and gene variation characteristics of children with dynein cytoplasmic 1 heavy chain …