RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.560
Abstract: We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas. read more here.
Keywords: samd12 ext1; multiple osteochondromas; ext1 fusion; detects samd12 ... See more keywords
Novel Mutations in Chinese Patients with Multiple Osteochondromas Identified Using Whole Exome Sequencing.
Sign Up to like & getrecommendations! Published in 2021 at "Genetic testing and molecular biomarkers"
DOI: 10.1089/gtmb.2020.0317
Abstract: Background: Multiple osteochondromas (MO) are an autosomal-dominant disease characterized by the growth of multiple cartilage-capped prominences in the growth plate region of the metaphysis in long and flat bones. Materials and Methods: To detect genetic… read more here.
Keywords: using whole; exome sequencing; multiple osteochondromas; whole exome ... See more keywords
The Impact of Isolated Versus Multiple Osteochondromas: Analysis of the CoULD Registry
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Pediatric Orthopaedics"
DOI: 10.1097/bpo.0000000000002167
Abstract: Purpose: The burden of upper extremity (UE) osteochondromas on function and self-perception among pediatric patients is unclear. The purpose of our study was to study the impact of osteochondromas in comparison to population norms and… read more here.
Keywords: function; osteochondromas; versus multiple; multiple osteochondromas ... See more keywords
Transitional care of adolescents with Multiple Osteochondromas: a convergent mixed-method study ‘Patients’, parents’ and healthcare providers’ perspectives on the transfer process’
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DOI: 10.1136/bmjopen-2021-049418
Abstract: Objectives Multiple osteochondromas (MO) is a rare hereditary disease characterised by numerous benign bone tumours. Its chronic aspect requires a well-organised transition from paediatric care to adult care; however, little is known on organising this… read more here.
Keywords: multiple osteochondromas; convergent mixed; transfer process; study ... See more keywords
Multiple osteochondromas of the antlers and cranium in a free-ranging white-tailed deer (Odocoileus virginianus)
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DOI: 10.1371/journal.pone.0173775
Abstract: This paper reports a case of multiple osteochondromas affecting the antlers and the left zygomatic bone of a free-ranging adult white-tailed buck (Odocoileus virginianus) from Georgia, USA. Along with a few postcranial bones, the antlered… read more here.
Keywords: odocoileus virginianus; white tailed; multiple osteochondromas; free ranging ... See more keywords
Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13112063
Abstract: Multiple Osteochondromatosis (MO, MIM 133700 & 133701), an autosomal dominant O-glycosylation disorder (EXT1/EXT2-CDG), can be associated with a reduction in skeletal growth, bony deformity, restricted joint motion, shortened stature and pathogenic variants in two tumor… read more here.
Keywords: pathogenic variants; ext1 ext2; clinical genetic; analysis multiple ... See more keywords
Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas
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DOI: 10.3390/molecules23123277
Abstract: Multiple osteochondromas (MO) is a hereditary disorder associated with benign cartilaginous tumors, known to be characterized by absence or highly reduced amount of heparan sulfate (HS) in the extracellular matrix of growth plate cartilage, which… read more here.
Keywords: sulfate multiple; chondrosarcomas; multiple osteochondromas; features heparan ... See more keywords
Identification of a novel mutation in the EXT1 gene from a patient with multiple osteochondromas by exome sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Medicine Reports"
DOI: 10.3892/mmr.2016.6086
Abstract: Multiple osteochondromas (MO) is an autosomal skeletal disease with an elusive molecular mechanism. To further elucidate the genetic mechanism of the disease a three-generation Chinese family with MO was observed and researched, and a novel… read more here.
Keywords: exome sequencing; novel mutation; multiple osteochondromas; ext1 gene ... See more keywords
A novel EXT2 frameshift mutation identified in a family with multiple osteochondromas
Sign Up to like & getrecommendations! Published in 2018 at "Oncology Letters"
DOI: 10.3892/ol.2018.9248
Abstract: Multiple osteochondromas (MO) is an autosomal inherited disease that is characterized by benign bone tumors. However, the underlying mechanism of MO at a molecular level requires further investigation. The majority of mutations associated with MO… read more here.
Keywords: multiple osteochondromas; family; frameshift mutation; mutation ... See more keywords
Autologous Fat Grafting as a Last Resort for Unsustainable Pain in a Woman with Multiple Osteochondromas
Sign Up to like & getrecommendations! Published in 2017 at "Archives of Plastic Surgery"
DOI: 10.5999/aps.2017.44.2.162
Abstract: Multiple osteochondromas (MO) is characterized by the formation of osteochondromas throughout the entire body. Although the evidence regarding its pathogenesis is well understood, no curative treatment for the disorder is available. Patients can be treated… read more here.
Keywords: multiple osteochondromas; autologous fat; fat grafting; woman ... See more keywords