Pei-Hsuan R. Tsai

Chronic hypophosphatemia leading to the diagnosis of autosomal recessive hypophosphatemic rickets type 2 caused by a novel pathogenic variant in ENPP1.

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare metabolic bone disorder caused by biallelic loss-of-function variants in ENPP1, the gene encoding for Ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), an enzyme essential for generating extracellular pyrophosphate, a key endogenous inhibit...