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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Springer Nature Singapore
2022
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| Materias: | |
| 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 |