Co-occurrence of Spondyloepiphyseal Dysplasia and X-Linked Hypophosphatemia in a Three-Generation Chinese Family

Rare genetic skeletal disorders (GSDs) remain the major problem in orthopedics and result in significant morbidity in patients, but the causes are highly diverse. Precise molecular diagnosis will benefit management and genetic counseling. This study aims to share the diagnostic experience on a three...

Descripción completa

Detalles Bibliográficos
Autores principales: Ma, Jian, Zhang, Ye, Ding, Xiaoxiao, Liang, Zhijiang, Yang, Chaoxiang, Deng, Zhi, He, Hui, Guan, Zhihong, Zeng, Chunhua, Lin, Yunting, Luo, Xianqiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2023
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449693/
https://www.ncbi.nlm.nih.gov/pubmed/37278761
http://dx.doi.org/10.1007/s00223-023-01104-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10449693/
https://www.ncbi.nlm.nih.gov/pubmed/37278761
http://dx.doi.org/10.1007/s00223-023-01104-0

Ejemplares similares