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Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene
BACKGROUND: Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple, circumscript and usually symmetric bony protuberances called osteochondromas. Most HME are caused by EXT1 and EXT2 loss of function mutations. Most pathogenic muta...
Autores principales: | , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10204154/ https://www.ncbi.nlm.nih.gov/pubmed/37217936 http://dx.doi.org/10.1186/s13039-023-00638-0 |