Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54

BACKGROUND: Spastic paraplegia type 54 (SPG54) is a rare inherited autosomal recessive disorder, and a complex hereditary spastic paraplegia (HSP) caused by mutations in the phospholipase DDHD2 gene. SPG54 is characterized by early onset of spastic paraplegia, intellectual disability and dysplasia o...

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Detalles Bibliográficos
Autores principales: Xu, Xin, Lu, Fen, Du, Senjie, Zhao, Xiaoke, Li, Hongying, Zhang, Li, Tang, Jian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458848/
https://www.ncbi.nlm.nih.gov/pubmed/36090575
http://dx.doi.org/10.3389/fped.2022.997274

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9458848/
https://www.ncbi.nlm.nih.gov/pubmed/36090575
http://dx.doi.org/10.3389/fped.2022.997274

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