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   Articles with "multiple osteochondromas" as a keyword



RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

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recommendations! 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.

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recommendations! 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

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recommendations! 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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recommendations! Published in 2021 at "BMJ Open"

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

Osteosarcoma Arising from Iliac Bone Lesions of Hereditary Multiple Osteochondromas: A Case Report

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recommendations! Published in 2024 at "Case Reports in Oncology"

DOI: 10.1159/000541480

Abstract: Abstract Introduction Osteochondromas are benign tumors that arise primarily in the metaphyseal region of long bones. The malignant transformation rate is estimated to be less than 1% and 1–3% in solitary and multiple osteochondromas, respectively.… read more here.

Keywords: osteosarcoma arising; iliac bone; case; hereditary multiple ... See more keywords

Secondary peripheral chondrosarcoma in multiple osteochondromas: a retrospective single-institution case series

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recommendations! Published in 2024 at "Orphanet Journal of Rare Diseases"

DOI: 10.1186/s13023-023-03006-8

Abstract: Background Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary peripheral chondrosarcoma, a malignant cartilaginous neoplasm that… read more here.

Keywords: disease; peripheral chondrosarcoma; chondrosarcoma multiple; multiple osteochondromas ... See more keywords

Multiple osteochondromas of the antlers and cranium in a free-ranging white-tailed deer (Odocoileus virginianus)

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recommendations! Published in 2017 at "PLoS ONE"

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

Cases report: Mosaic structural variants of the EXT1 gene in previously genetically unconfirmed multiple osteochondromas

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recommendations! Published in 2024 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2024.1435493

Abstract: Multiple osteochondromas (MO) is a rare autosomal dominant skeletal disorder characterized by the development of multiple benign tumors known as osteochondromas. The condition is predominantly caused by loss-of-function variants in the EXT1 or EXT2 genes,… read more here.

Keywords: ext1 gene; variants ext1; analysis; mosaic structural ... See more keywords

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

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recommendations! 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
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Structural Features of Heparan Sulfate from Multiple Osteochondromas and Chondrosarcomas

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recommendations! Published in 2018 at "Molecules"

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

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recommendations! 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