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Genotype and Phenotype Analysis in X-Linked Hypophosphatemia

Background: X-linked hypophosphatemia (XLH) is the most frequent form of hypophosphatemic rickets and is caused by mutations in the PHEX gene. We analyzed genotype-phenotype correlations in XLH patients with proven PHEX mutations. Methods:PHEX mutations were detected in 55 out of 81 patients who cli...

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Detalles Bibliográficos
Autores principales:	Park, Peong Gang, Lim, Seon Hee, Lee, HyunKyung, Ahn, Yo Han, Cheong, Hae Il, Kang, Hee Gyung
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2021
Materias:	Pediatrics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8382157/ https://www.ncbi.nlm.nih.gov/pubmed/34434907 http://dx.doi.org/10.3389/fped.2021.699767

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