A novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 gene leading to autosomal dominant hypophosphatemia: A case report

RATIONALE: Currently, the relationship between heterozygous mutations in SLC34A1 and hypophosphatemia is controversial. Here we report an autosomal dominant hypophosphatemia pedigree carrying a novel heterozygous mutation in SLC34A1. PATIENT CONCERNS: The proband is a 32-year old young man, presente...

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Detalles Bibliográficos
Autores principales: Chen, Xiang, Xie, Ying, Wan, Shan, Xu, Jin, Cai, Bei, Zhang, Yi, Yu, Xijie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531229/
https://www.ncbi.nlm.nih.gov/pubmed/31096470
http://dx.doi.org/10.1097/MD.0000000000015617

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6531229/
https://www.ncbi.nlm.nih.gov/pubmed/31096470
http://dx.doi.org/10.1097/MD.0000000000015617

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