Article
Expanding the phenotypic spectrum of TNFRSF11A-associated dysosteosclerosis: a case with intracranial extramedullary hematopoiesis.
Journal of human genetics - 1 Jun 2021
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
Abstract excerpt
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, autosomal recessive 7, and is recently reported to cause DOS in three cases, which show a complex genotype-phenotype...
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