X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro-Reference-Cited by-同舟云学术

X‐linked hypophosphatemic rickets: Description of seven new variants in patients followed up in reference hospitals in Rio de Janeiro

Published:2022-04-06 Issue:6 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Sant’ Ana Iara¹²^ORCID,Torrini Renato¹^ORCID,Alves Coelho Maria Caroline³^ORCID,Cantoni Joyce¹^ORCID,Madeira Miguel²^ORCID,Ribeiro Márcia⁴^ORCID

Affiliation:

1. Instituto Estadual de Diabetes e Endocrinologia Luiz Capriglione (IEDE) Rio de Janeiro Brazil

2. Endocrinology Division Universidade Federal do Rio de Janeiro (UFRJ) Rio de Janeiro Brazil

3. Universidade do Estado do Rio de Janeiro (UERJ) Rio de Janeiro Brazil

4. Medical Genetic Service, Instituto de Puericultura e Pediatria Martagão Gesteira Universidade Federal do Rio de Janeiro (UFRJ) Rio de Janeiro Brazil

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1941

Reference15 articles.

1. Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

2. College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests

3. Targeted inactivation of Npt2 in mice leads to severe renal phosphate wasting, hypercalciuria, and skeletal abnormalities

4. Database THGM.PHEXmutationshttp://hgmd.cf.ac.uk/ac/genr.php?gene=PHEX

5. Mutational analysis of PHEX gene in X‐linked hypophosphatemia;Dixon P. H.;The Journal of Clinical Endocrinology and Metabolism,1998

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1. A genetic study of a Brazilian cohort of patients with X-linked hypophosphatemia reveals no correlation between genotype and phenotype;Frontiers in Pediatrics;2023-09-19