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

Abstract 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. Th...

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Autors principals:	Nahid Tavana, Tzer Hwu Ting, Kaitao Lai, Marina L. Kennerson, Karuppiah Thilakavathy
Format:	Artigo
Idioma:	Inglês
Publicat:	BMC 2022-12-01
Col·lecció:	Italian Journal of Pediatrics
Matèries:	Hypophosphatemic rickets Phosphate PHEX DMP1 Mutation Whole exome sequencing
Accés en línia:	https://doi.org/10.1186/s13052-022-01385-5
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