Multiple hereditary exostosis, EXT genes, and skeletal development.
نویسنده
چکیده
Multiple hereditary exostosis, EXT genes, and skeletal development.
منابع مشابه
An Overview and Insights into Osteochondroma – A Rare Tumor of Bone and Cartilage
Osteochondromas are the rare benign and malignant tumour of the growing bone, usually affecting the young adults. Solitary osteocartilaginous exostosis is more common than the hereditary multiple exostosis (HME). The first 3 decades of life has maximum chances of getting affected with osteochondroma and hardly occurs in craniofacial bones because of the fact that these bones are not formed by e...
متن کاملPositional cloning of a gene involved in hereditary multiple exostoses.
Hereditary multiple exostosis (EXT) is an autosomal dominant condition mainly characterized by the presence of multiple exostoses on the long bones. These exostoses are benign cartilaginous tumors (enchondromata). Three different EXT loci on chromosomes 8q (EXT1), 11p (EXT2) and 19p (EXT3) have been reported, and recently the EXT1 gene was identified by positional cloning. To isolate the EXT2 g...
متن کاملManifestations of hereditary multiple exostoses.
The solitary osteochondroma, a common pediatric bone tumor, is a cartilage-capped exostosis. Hereditary multiple exostosis is an autosomal dominant disorder manifested by the presence of multiple osteochondromas. Linkage analysis has implicated mutations in the EXT gene family, resulting in an error in the regulation of normal chondrocyte proliferation and maturation that leads to abnormal bone...
متن کاملPopliteal pseudoaneurysm secondary to multiple hereditary exostoses.
A 20-year-old man with multiple hereditary exostoses presented with a pulsatile swelling in the posterior-medial distal thigh. He gave a history that 5 weeks previously, after squatting down then standing, he experienced a sharp pain behind his right knee. Magnetic resonance (MR) imaging demonstrated a large haematoma associated with the popliteal artery. Ultrasound imaging visualized a 9-cm po...
متن کاملThe Genetics of Hereditary Multiple Exostoses
Sandra A. Darilek, MS and Jacqueline T. Hecht, Ph.D. It is suggested if you do not have a back round in genetic to read the link to The Genetics of Multiple Hereditary Exostoses A Simplified Explanation Wim Wuyts, Ph.D. Multiple Hereditary Exostoses ‐ General aspects Introduction Hereditary multiple exostosis (HME) is a skeletal disorder characterized by the presence of numerous bony outgrow...
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ورودعنوان ژورنال:
- The Journal of bone and joint surgery. American volume
دوره 91 Suppl 4 شماره
صفحات -
تاریخ انتشار 2009