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...

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Detalles Bibliográficos
Autores principales: Alexandrou, Angelos, Salameh, Nicole, Papaevripidou, Ioannis, Nicolaou, Nayia, Myrianthopoulos, Panayiotis, Ketoni, Andria, Kousoulidou, Ludmila, Anastasiou, Anna-Maria, Evangelidou, Paola, Tanteles, George A., Sismani, Carolina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
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

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