Camurati-engelmann disease: Unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand
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چکیده
منابع مشابه
Camurati-Engelmann Disease: Unique Variant Featuring a Novel Mutation in TGFβ1 Encoding Transforming Growth Factor Beta 1 and a Missense Change in TNFSF11 Encoding RANK Ligand
We report a 32-year-old man and his 59-year-old mother with a unique and extensive variant of Camurati-Engelmann disease (CED) featuring histopathological changes of osteomalacia and alterations within TGFβ1 and TNFSF11 encoding TGFβ1 and RANKL, respectively. He suffered leg pain and weakness since childhood and reportedly grew until his late 20s, reaching 7 feet in height. He had deafness, per...
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Background and Objectives: Nasal polyposis is a diseases resulting from complex pathogenetic mechanisms. Some studies showed that TGFβ1 had significant role in this pathogenesis. In this study, we investigated the roe of cytokines and mediators in polyp development. Material and Methods: In this case- control study, healthy nasal mucosal samples were obtained from 24 peopl...
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The aim of the present study was to investigate the clinical characteristics and major causative gene in pediatric patients with Camurati‑Engelmann disease (CED). Biochemical and radiographic examinations, bone scintigraphy and genetic analyses were performed in two affected males and their parents. The two patients experienced waddling gait, muscular weakness and growth developmental delay. X-...
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background and objectives: nasal polyposis is a diseases resulting from complex pathogenetic mechanisms. some studies showed that tgfβ1 had significant role in this pathogenesis. in this study, we investigated the roe of cytokines and mediators in polyp development. material and methods: in this case- control study, healthy nasal mucosal samples were obtained from 24 people undergoing septoplas...
متن کامل[Camurati-Engelmann disease].
1Senior Registrar, Endocrinology, 2Consultant Endocrinologist, 3Consultant Radiologist, 4Senior Registrar, Orthopedic, 5Consultant Orthopedic Surgeon, 6Consultant Histo Pathologist, National Hospital of Sri Lanka. Figure 1. Xray skull – lateral. Figure 2. Histology of the bone biopsy shows mature thick cortical lamellar bone with regular prominent cement lines (thick arrow) with prominent osteo...
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ژورنال
عنوان ژورنال: Journal of Bone and Mineral Research
سال: 2011
ISSN: 0884-0431
DOI: 10.1002/jbmr.283