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Autor:
Sandra Pihlström, Sampo Richardt, Kirsi Määttä, Minna Pekkinen, Vesa M. Olkkonen, Outi Mäkitie, Riikka E. Mäkitie
Publikováno v:
Frontiers in Endocrinology, Vol 14 (2023)
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 wi
Externí odkaz:
https://doaj.org/article/e6aa24c419f745f58407d86e2218a246