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    Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family

    Diagnostic journey and genetic analysis of a novel homozygous CYP2U1 mutation causing autosomal recessive spastic paraplegia type 56 (SPG56) in a consanguineous family by Hong-ping Yu, Jing Zou, Xiang Chen, Ying Chen, Dan-dan Ruan, Qian Chen, Jian-hui Zhang, Qiong Cheng, Xing-lin Ruan, Wei Wen, Li Chen, Jie-wei Luo, Yun-fei Li, Xiao-lin Jiang

    Published 2025-05-01
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