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

Internet

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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