Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Autosomal recessive osteopetrosis (ARO) is a rare genetic disorder caused by impaired osteoclast activity. In this study, we describe a 4-year-old boy with increased bone density due to osteopetrosis, autosomal recessive 8. Using genome sequencing, we identified a large deletion in the 5′-untranslat...

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Detalles Bibliográficos
Autores principales: Udupa, Prajna, Ghosh, Debasish Kumar, Kausthubham, Neethukrishna, Shah, Hitesh, Bartakke, Sandip, Dalal, Ashwin, Girisha, Katta M, Bhavani, Gandham SriLakshmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Nature Singapore 2022
Materias:
Brief Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040338/
https://www.ncbi.nlm.nih.gov/pubmed/36526684
http://dx.doi.org/10.1038/s10038-022-01104-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10040338/
https://www.ncbi.nlm.nih.gov/pubmed/36526684
http://dx.doi.org/10.1038/s10038-022-01104-2

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