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  1. Article

    Open Access

    Novel heterozygous compound TRMT5 mutations associated with combined oxidative phosphorylation deficiency 26 in a Chinese family: a case report

    Combined oxidative phosphorylation deficiency 26 (COXPD26) is an autosomal recessive disorder characterized by early onset, developmental delay, gastrointestinal dysfunction, shortness of breath, exercise into...

    Shuiyan Wu, Weixi Li, Zhenjiang Bai, Saihu Huang, Dao** Yang… in BMC Pediatrics (2022)

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  2. No Access

    Article

    Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome

    Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is caused by variants in BRAT1 (BRCA1-associated protein required for ATM activation-1). However, the molecular mechanism of RMFSL is still unclear...

    Weixi Li, Shuiyan Wu, Huizhong Xu, **aoying Zhao, Yizhi Pan… in Pediatric Research (2022)

  3. Article

    Open Access

    Novel mutations of the POLR3A gene caused POLR3-related leukodystrophy in a Chinese family: a case report

    POLR3-related leukodystrophy is an autosomal recessive neurodegenerative disorder characterized by onset time ranging from the neonatal period to late childhood, progressive motor decline that manifests as spa...

    Shuiyan Wu, Zhenjiang Bai, **ngqiang Dong, Dao** Yang, Hongmei Chen… in BMC Pediatrics (2019)

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