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Article

Dysosteosclerosis is also caused by TNFRSF11A mutation.

Journal of human genetics - 1 Jun 2018

Guo Long, Elcioglu Nursel H, Karalar Ozge K, Topkar Mert O, Wang Zheng, Sakamoto Yuma, Matsumoto Naomichi, Miyake Noriko, Nishimura Gen, Ikegawa Shiro

Abstract excerpt

Dysosteosclerosis (DOS) is a form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. Its mode of inheritance is autosomal recessive. SLC29A3 mutations have been reported as the causal gene in two DOS families, however, genetic heterogeneity has been suggested. By whole-exome sequencing in a Turkish patient with DOS, we found a novel splice-site mutation in TNFRSF11A. TNFRSF11A...

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PMID: 29568001
DOI: 10.1038/s10038-018-0447-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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