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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Detalles Bibliográficos
Autores principales: Kırkgöz, Tarık, Özkan, Behzat, Hazan, Filiz, Acar, Sezer, Nalbantoğlu, Özlem, Özkaya, Beyhan, Kulalı, Melike Ataseven, Gürsoy, Semra, Ikegawa, Shiro, Guo, Long
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263543/
https://www.ncbi.nlm.nih.gov/pubmed/35812760
http://dx.doi.org/10.3389/fgene.2022.938814

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9263543/
https://www.ncbi.nlm.nih.gov/pubmed/35812760
http://dx.doi.org/10.3389/fgene.2022.938814

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