Cargando…

SLC34A3 Intronic Deletion in an Iranian Kindred with Hereditary Hypophosphatemic Rickets with Hypercalciuria

OBJECTIVE: To describe clinical findings, biochemical profile and genetic analysis in an Iranian kindred with hereditary hypophosphatemic rickets with hypercalciuria (HHRH). METHODS: Clinical examination and biochemical profile results and gene analysis of 12 members of a family of a patient previou...

Descripción completa

Detalles Bibliográficos
Autores principales: Hasani-Ranjbar, Shirin, Ejtahed, Hanieh-Sadat, Amoli, Mahsa M., Bitarafan, Fatemeh, Qorbani, Mostafa, Soltani, Akbar, Yarjoo, Bahareh
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6280320/
https://www.ncbi.nlm.nih.gov/pubmed/29809158
http://dx.doi.org/10.4274/jcrpe.0057