Whole exome sequencing identifies two novel variants in PHEX and DMP1 in Malaysian children with hypophosphatemic rickets

BACKGROUND: Hypophosphatemic rickets (HR) is a genetic disease of phosphate wasting that is characterized by defective bone mineralization. The most common cause of the disease is mutations in the phosphate regulating gene with homologies to endopeptidases on the X chromosome (PHEX) gene. The aims o...

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Detalles Bibliográficos
Autores principales: Tavana, Nahid, Ting, Tzer Hwu, Lai, Kaitao, Kennerson, Marina L., Thilakavathy, Karuppiah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730657/
https://www.ncbi.nlm.nih.gov/pubmed/36482408
http://dx.doi.org/10.1186/s13052-022-01385-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9730657/
https://www.ncbi.nlm.nih.gov/pubmed/36482408
http://dx.doi.org/10.1186/s13052-022-01385-5

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