A Rare Cause of Hypophosphatemia: Raine Syndrome Changing Clinical Features with Age

Raine Syndrome (RS) is caused by biallelic loss-of-function mutations in FAM20C gene and characterized by hypophosphatemia, typical facial and skeletal features. Subperiosteal bone formation and generalized osteosclerosis are the most common radiological findings. Here we present a new case with RS....

Descripción completa

Detalles Bibliográficos
Autores principales: Eltan, Mehmet, Alavanda, Ceren, Yavas Abali, Zehra, Ergenekon, Pinar, Yalındag Ozturk, Nilufer, Sakar, Mustafa, Dagcinar, Adnan, Kirkgoz, Tarik, Kaygusuz, Sare Betul, Gokdemir, Yasemin, Elcioglu, Huriye Nursel, Guran, Tulay, Bereket, Abdullah, Ata, Pinar, Turan, Serap
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer US 2020
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222149/
https://www.ncbi.nlm.nih.gov/pubmed/32337609
http://dx.doi.org/10.1007/s00223-020-00694-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7222149/
https://www.ncbi.nlm.nih.gov/pubmed/32337609
http://dx.doi.org/10.1007/s00223-020-00694-3

Ejemplares similares