Double mutant alleles in the EXT1 gene not previously reported in a teenager with hereditary multiple exostoses [PDF]
, 2015 Las formas hereditarias de exostosis múltiple, actualmente denominada EXT1/EXT2-CDG dentro de los desórdenes congénitos de la glicosilación, son los tumores óseos benignos más comunes y se caracterizan por la formación de lesiones óseas cubiertas de ...
Asteggiano, Carla Gabriela +11 more
core +1 more source
Osteochondroma of rib cage in a case of HME: A rare presentation
Journal of Orthopaedic Reports, 2023 Background: Osteochondroma is the most common benign bone tumor. This aberrant developmental lesion of the bone in the rib is rare and forms part of multiple diaphyseal aclasia in some cases.
Saroj prasad Sah +5 more
doaj +1 more source
Targeted Disruption of Shp2 in Chondrocytes Leads to Metachondromatosis With Multiple Cartilaginous Protrusions [PDF]
, 2014 Metachondromatosis is a benign bone disease predominantly observed in the hands and feet of children or young adults demonstrating two different manifestations: a cartilage‐capped bony outgrowth on the surface of the bone called exostosis and ectopic ...
Chen, Di +4 more
core +2 more sources
Osteochondroma of Upper Dorsal Spine Causing Spastic Paraparesis in Hereditary Multiple Exostosis: A Case Report [PDF]
Journal of Clinical and Diagnostic Research, 2015 Osteochondroma of the spine is rare. It may present in solitary or multiple form (hereditary multiple exostoses). Herein, we report a case of an 18-year-old male who was diagnosed with thoracic osteochondroma, originating from the D4 vertebra with ...
Gaurav Kumar Upadhyaya +4 more
doaj +1 more source
Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva. [PDF]
, 1993 Chronic intoxication by ethane-1-hydroxy-1,1-diphosphonate (EHDP) in a child with myositis ossificans progressiva.
Beluffi G +4 more
core +1 more source
Osteopoikilosis and multiple exostoses caused by novel mutations in LEMD3 and EXT1 genes respectively - coincidence within one family [PDF]
, 2010 Background Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1 ...
Sevjidmaa Baasanjav +7 more
core +1 more source
11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report [PDF]
, 2009 Udgivelsesdato: 2009-nullABSTRACT: WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion syndromes caused by deletions of the 11p14-p12 chromosome region ...
Gitte J Almind +4 more
core +3 more sources
Glycan Engineering for Cell and Developmental Biology [PDF]
, 2016 Cell-surface glycans are a diverse class of macromolecules that participate in many key biological processes, including cell-cell communication, development, and disease progression.
Griffin, Matthew E. +1 more
core +1 more source
The Anatomical Record, EarlyView.Domestic rabbits of different body sizes differ disproportionately in the length of their tooth row or the length of their diastema. Abstract In various domestic mammals, smaller breeds tend to have proportionally larger teeth, whereas this is not a universal trend across mammals.
Ursina L. Fasciati +3 more
wiley +1 more source
Hereditary multiple exostoses with a giant osteochondroma degenerated into chondrosarcoma
Radiology Case ReportsWe present a case of hereditary multiple exostoses with malignant transformation to chondrosarcoma in a woman complaining of enlargement and pain in the right thigh.
Federica Masino, MD +6 more
doaj +1 more source