De Novo Large Deletions in the PHEX Gene Caused X-Linked Hypophosphataemic Rickets in Two Italian Female Infants Successfully Treated with Burosumab.

Carmine Pecoraro,Tiziana Fioretti, Assunta Perruno,Antonella Klain,Daniela Cioffi,Adelaide Ambrosio, Diego Passaro,Luigi Annicchiarico Petruzzelli,Carmela Di Domenico, Domenico de Girolamo, Sabrina Vallone,Fabio Cattaneo,Rosario Ammendola,Gabriella Esposito

DIAGNOSTICS（2023）

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burosumab,FGF23,heterozygous deletion,hypophosphatemic rickets,multiple ligation probe amplification,next-generation sequencing,gene,therapy,X-linked dominant hypophosphataemia

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