X-linked hypophosphatemic rickets: a new mutation

X-linked hypophosphatemic rickets: a new mutation

Abstract Phosphopenic rickets may be caused by mutations in the PHEX gene (phosphate regulating endopeptidase homolog X-linked). Presently, more than 500 mutations in the PHEX gene have been found to cause hypophosphatemic rickets. The authors report a clinical case of a 4-year-old girl with unremar...

Full description

Bibliographic Details
Main Authors: Patrícia Maio, Lia Mano, Sara Rocha, Rute Baeta Baptista, Telma Francisco, Helena Sousa, João Parente Freixo, Margarida Abranches
Format: Article
Language:English
Published: Sociedade Brasileira de Nefrologia 2020-09-01
Series:Brazilian Journal of Nephrology
Subjects:
Rickets, Hypophosphatemic
Mutation
PHEX
Online Access:http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000200279&tlng=en

Internet

http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0101-28002021000200279&tlng=en

Similar Items