Yunsoo Choe Choong Ho Shin Young Ah Lee Man Jin Kim Yun Jeong Lee
10.3389/fendo.2022.911672
Front Endocrinol (Lausanne)
2022 Jul 29;13:911672.
autosomal recessive hypophosphatemic rickets case report child ectonucleotide pyrophosphatase phosphodiesterase 1 rickets
CC BY
https://pubmed.ncbi.nlm.nih.gov/35966073/
Familial Hypophosphatemic Rickets / genetics
Familial Hypophosphatemic Rickets / genetics Case Reports Review Research Support, Non-U.S. Gov't Humans Mutation Phosphates Phosphoric Diester Hydrolases / genetics Pyrophosphatases / genetics Phosphates Phosphoric Diester Hydrolases Pyrophosphatases Hypophosphatemic Rickets, Autosomal Recessive, 1
PMC9374118
35966073
Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene
2022