Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene

Abstract 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 pathoge...

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Main Authors: Angelos Alexandrou, Nicole Salameh, Ioannis Papaevripidou, Nayia Nicolaou, Panayiotis Myrianthopoulos, Andria Ketoni, Ludmila Kousoulidou, Anna-Maria Anastasiou, Paola Evangelidou, George A. Tanteles, Carolina Sismani
Format: Article
Language:English
Published: BMC 2023-05-01
Series:Molecular Cytogenetics
Subjects:
Hereditary multiple exostoses
EXT1
Complex chromosomal rearrangement
Online Access:https://doi.org/10.1186/s13039-023-00638-0

Internet

https://doi.org/10.1186/s13039-023-00638-0

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