SGMS2 in primary osteoporosis with facial nerve palsy

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...

Full description

Bibliographic Details
Main Authors: Sandra Pihlström, Sampo Richardt, Kirsi Määttä, Minna Pekkinen, Vesa M. Olkkonen, Outi Mäkitie, Riikka E. Mäkitie
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-10-01
Series:Frontiers in Endocrinology
Subjects:
SMS2
SGMS2-related osteoporosis
sphingomyelin metabolism
bone and neural tissue
sphingolipids
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2023.1224318/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2023.1224318/full

Similar Items