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Article

Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.

International journal of environmental research and public health - 19 Aug 2021

Mameli Chiara, Sangiorgio Arianna, Colombo Valeria, Gambino Mirko, Spaccini Luigina, Cattaneo Elisa, Zuccotti Gian Vincenzo

Abstract excerpt

Autosomal dominant hypophosphatemic rickets (ADHR) is an extremely rare form of genetic rickets caused by mutations in the fibroblast growth factor 23 gene. ADHR is characterized by hypophosphatemia secondary to isolated renal phosphate wasting. Only a few cases of ADHR have been reported in the literature to date. We describe the case of a 17-month-old girl who presented with severe failure to thrive (length:...

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Identifiers

PMID: 34444516
DOI: 10.3390/ijerph18168771
PMCID: PMC8392413

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