SAT-069 Advantages of Next Generation Sequencing (NGS) in Hypophosphatemic Disorders Diagnosis. First Case of SLC9A3R1 Gene Pathogenic Variant Detected in a Pediatric Patient

Background: Hereditary hypophosphatemic rickets (HHR) is a group of inherited disorders characterized by hypophosphatemia due to renal-phosphate wasting and impairment of vitamin D metabolism, rickets and disproportioned short stature. Different genetic defects are known to cause HHR, but similar cl...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Ramirez, Biochemist, Pablo, Palma, Isabel Di, Viterbo, Gisela, Perez-Garrido, Biochemist, Natalia Isabel, Pujana, Biochemist, Matias, Juanes, Matias, Belgorosky, Alicia, Marino, Roxana Marcela
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Pediatric Endocrinology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7208205/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa046.1964
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