TNFRSF11A-associated dysosteosclerosis: a report of the second case and characterization of the phenotypic spectrum.
Mol Med Rep. 2018 Aug;18(2):1623-1627. doi: 10.3892/mmr.2018.9126. Epub 2018 Jun 5. PubMed
PMID: 29901133; PubMed Central PMCID: PMC6072148.
Jun 22, 2019
Author information: Laboratory for Bone and Joint Diseases, RIKEN Center for Integrative Medical Sciences, Tokyo108-8639, Japan. Abstract Dysosteosclerosis (DOS) is a distinct form of sclerosing bone disease characterized by irregular osteosclerosis and platyspondyly. DOS is genetically heterogeneous; however, only five cases with SLC29A3 mutations and a single case with a splice-site mutation of TNFRSF11A have […]