Case Report and Review of Literature: Autosomal Recessive Hypophosphatemic Rickets Type 2 Caused by a Pathogenic Variant in ENPP1 Gene

Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) is a rare form of hereditary rickets, which is characterized by defective bone mineralization and renal phosphate wasting due to a loss-of-function variant in the ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) gene. Although pat...

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Detalles Bibliográficos
Autores principales: Choe, Yunsoo, Shin, Choong Ho, Lee, Young Ah, Kim, Man Jin, Lee, Yun Jeong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9374118/
https://www.ncbi.nlm.nih.gov/pubmed/35966073
http://dx.doi.org/10.3389/fendo.2022.911672

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9374118/
https://www.ncbi.nlm.nih.gov/pubmed/35966073
http://dx.doi.org/10.3389/fendo.2022.911672

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