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Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and other genetic disorders of renal phosphate wasting

BACKGROUND: Hypophosphataemic rickets (HR) comprise a clinically and genetically heterogeneous group of conditions, defined by renal-tubular phosphate wasting and consecutive loss of bone mineralisation. X-linked hypophosphataemia (XLH) is the most common form, caused by inactivating dominant mutati...

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Detalles Bibliográficos
Autores principales:	Thiele, Susanne, Werner, Ralf, Stubbe, Annika, Hiort, Olaf, Hoeppner, Wolfgang
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2020
Materias:	Clinical Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7592643/ https://www.ncbi.nlm.nih.gov/pubmed/33107440 http://dx.doi.org/10.1530/EJE-20-0275

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