Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis

Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by osteosclerosis and platyspondyly. DOS is genetically heterogeneous and causally associated with mutations in three genes, SLC29A3, CSF1R, and TNFRSF11A. TNFRSF11A has been known as the causal gene for osteopetrosis, autosom...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Journal of human genetics 2021-06, Vol.66 (6), p.607-611
Hauptverfasser:	Xue, Jing-Yi, Simsek-Kiper, Pelin O, Utine, Gulen Eda, Yan, Li, Wang, Zheng, Taskiran, Ekim Z, Karaosmanoglu, Beren, Imren, Gozde, Gocmen, Rahsan, Nishimura, Gen, Matsumoto, Naomichi, Miyake, Noriko, Ikegawa, Shiro, Guo, Long
Format:	Artikel
Sprache:	eng
Schlagworte:	Bone dysplasia Diagnosis Genetic screening Genotypes Missense mutation Mutation Osteopetrosis Osteoprotegerin Osteosclerosis Phenotypes
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!