Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl

Autosomal recessive hypophosphatemic rickets (ARHR) type 2 (ARHR2) is a rare form of hypophosphatemic rickets (HR) caused by a variant of the gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1). Our patient presented with a history of unsteady gait and progressively bowing legs...

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Váldodahkkit:	Han-Yi Lin, Ni-Chung Lee, Meng-Ju Melody Tsai, Ting-Ming Wang, Yi-Ching Tung
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Pediatric Endocrinology and Diabetes Society 2026-05-01
Ráidu:	JCRPE
Fáttát:	encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (enpp1) fibroblast growth factor 23 (fgf23) hypophosphatemic rickets
Liŋkkat:	https://www.jcrpe.org/articles/autosomal-recessive-hypophosphatemic-rickets-type-2-associated-with-a-novel-lessemgreaterenpp1lessemgreater-variant-in-a-taiwanese-girl/doi/jcrpe.galenos.2024.2024-3-8
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