Identification of a Novel EXT Mutation in A Kindred With Hereditary Multiple Exostoses Using Whole-Exome Sequencing and Overview of Mutation Spectrum [PDF]
, 2021 yanhan deng +3 more
openalex +1 more source
Hereditary multiple exostoses in a15-year-old boy: A case report and review of literature
Nigerian Journal of Paediatrics, 2016 Background: Hereditary Multiple Exostoses (HME) is a rare bone disease, usually associated with deformity and pressure symptoms. It is an autosomal dominant disorder characterized by the development of benign tumours growing outward from the metaphyses ...
Eke GK , Omunakwe HE , Echem RC
doaj
The Structure of the Human Multiple Exostoses 2 Gene and Characterization of Homologs in Mouse andCaenorhabditis elegans [PDF]
, 1997 Gregory A. Clines +3 more
openalex +1 more source
Osteochondroma of the mandibular condyle: Resection and reconstruction using vertical sliding osteotomy of the mandibular ramus [PDF]
, 2009 Osteochondroma is one of the most common benign bone tumours, although not in the craniofacial region. More than half of these appear in the coronoid process.
Escrig de Teigeiro, M. +4 more
core
The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses [PDF]
, 2015 Young Bae Sohn +3 more
openalex +1 more source
, 1989 Anybody infected by the humour of Ash and Lake\u27s Bizzare Books (particularly Chapter 2, The Right Person for the job ) will be continually on the lookout for similar bibliographic anomalies. Working in a medical library, I have developed the habit
Holgate, John
core +1 more source
Hereditary multiple exostoses caused by a chromosomal inversion removing part of EXT1 gene. [PDF]
Mol Cytogenet, 2023 Alexandrou A +10 more
europepmc +1 more source
Importância do estudo multigénico no diagnóstico molecular de doenças raras por sequenciação de nova geração [PDF]
, 2019 Introdução: A sequenciação de nova geração (NGS) revolucionou o diagnóstico molecular das doenças raras (DR) proporcionando a análise de um maior número de genes, resultados mais rápidos e custos reduzidos. A NGS usando diferentes abordagens, possibilita
Gonçalves, João +4 more
core
One-Bone Forearm Procedure for Severe Recalcitrant Forearm Deformities in Masada IIb Hereditary Multiple Exostoses. [PDF]
Indian J Orthop, 2023 Agashe MV +5 more
europepmc +1 more source