A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis

Dysosteosclerosis (DOS) is a rare sclerosing bone dysplasia characterized by unique osteosclerosis of the long tubular bones and platyspondyly. DOS is inherited in an autosomal recessive manner and is genetically and clinically heterogeneous. To date, four individuals with DOS who have five differen...

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Bibliographic Details
Main Authors: Tarık Kırkgöz, Behzat Özkan, Filiz Hazan, Sezer Acar, Özlem Nalbantoğlu, Beyhan Özkaya, Melike Ataseven Kulalı, Semra Gürsoy, Shiro Ikegawa, Long Guo
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-06-01
Series:Frontiers in Genetics
Subjects:
TNFRSF11A/TNR11/RANK
dysosteosclerosis
sclerosing bone dysplasia
osteopetrosis
mutation
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.938814/full

Internet

https://www.frontiersin.org/articles/10.3389/fgene.2022.938814/full

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