SGMS2 in primary osteoporosis with facial nerve palsy

Pathogenic heterozygous variants in SGMS2 cause a rare monogenic form of osteoporosis known as calvarial doughnut lesions with bone fragility (CDL). The clinical presentations of SGMS2-related bone pathology range from childhood-onset osteoporosis with low bone mineral density and sclerotic doughnut...

Descripción completa

Detalles Bibliográficos
Autores principales: Pihlström, Sandra, Richardt, Sampo, Määttä, Kirsi, Pekkinen, Minna, Olkkonen, Vesa M., Mäkitie, Outi, Mäkitie, Riikka E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10598846/
https://www.ncbi.nlm.nih.gov/pubmed/37886644
http://dx.doi.org/10.3389/fendo.2023.1224318

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10598846/
https://www.ncbi.nlm.nih.gov/pubmed/37886644
http://dx.doi.org/10.3389/fendo.2023.1224318

Ejemplares similares