Clinical and genetic characteristics of hypophosphatasia in Chinese children

BACKGROUND: Hypophosphatasia (HPP) is a rare inherited disorder, which is caused by loss-of-function mutations in the ALPL gene. HPP is a heterogeneous disease that has a wide spectrum of phenotypes. Few studies were carried out in the Chinese population with HPP, especially in children. METHODS: Th...

Descripción completa

Detalles Bibliográficos
Autores principales: Liu, Meijuan, Liu, Min, Liang, Xuejun, Wu, Di, Li, Wenjing, Su, Chang, Cao, Bingyan, Chen, Jiajia, Gong, Chunxiu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028151/
https://www.ncbi.nlm.nih.gov/pubmed/33827627
http://dx.doi.org/10.1186/s13023-021-01798-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8028151/
https://www.ncbi.nlm.nih.gov/pubmed/33827627
http://dx.doi.org/10.1186/s13023-021-01798-1

Ejemplares similares