Xin Xu Fen Lu Senjie Du Xiaoke Zhao Hongying Li Li Zhang Jian Tang
10.3389/fped.2022.997274
Front Pediatr
2022 Aug 26;10:997274.
ddhd2 children compound heterozygous mutations intellectual disability spastic paraplegia
CC BY
https://pubmed.ncbi.nlm.nih.gov/36090575/
Case Reports
PMC9458848
36090575
Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54
2022