A New de novo Mosaic Mutation of PHEX Gene: A Case Report of a Boy with Hypophosphatemic Rickets

BACKGROUND: X-linked hypophosphatemia is the most prevalent form of heritable rickets, characterized by an X-linked dominant inheritance pattern. The genetic basis of X-linked hypophosphatemia is a loss-of-function mutation in the PHEX gene (Phosphate regulating gene with Homology to Endopeptidases...

Descripción completa

Detalles Bibliográficos
Autores principales: Terracciano, Alessandra, De Bernardi, Margherita Lucia, Novizio, Roberto, De Brasi, Davide, Iolascon, Achille, Della Monica, Matteo, Scavuzzo, Francesco, Serino, Domenico, Novelli, Antonio, Piscopo, Carmelo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2023
Materias:
Pharmacology, Medicine, Endocrinology, Immunology, Inflammation & Allergy, Biochemistry and Molecular Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10518859/
https://www.ncbi.nlm.nih.gov/pubmed/36847234
http://dx.doi.org/10.2174/1871530323666230227142202

Ejemplares similares

Ejemplares similares