Genetic Testing Confirmed the Early Diagnosis of X-Linked Hypophosphatemic Rickets in a 7-Month-Old Infant

Loss-of-function mutations in the phosphate regulating gene with homologies to endopeptidases on the X-chromosome (PHEX) have been causally associated with X-linked hypophosphatemic rickets (XLHR). The early diagnosis of XLHR in infants is challenging when it is based solely on clinical features and...

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Detalles Bibliográficos
Autores principales: Poon, Kok Siong, Sng, Andrew Anjian, Ho, Cindy Weili, Koay, Evelyn Siew-Chuan, Loke, Kah Yin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748509/
https://www.ncbi.nlm.nih.gov/pubmed/26904698
http://dx.doi.org/10.1177/2324709615598167

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4748509/
https://www.ncbi.nlm.nih.gov/pubmed/26904698
http://dx.doi.org/10.1177/2324709615598167

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