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1. ブシュケ・オレンドルフ症候群buschke ollendorff syndrome [show details]
…which arises occasionally in patients with underlying osteopoikilosis . This mixed sclerosing bone dysplasia is characterized by abnormalities of endochondral and membranous ossification ; ectopic bone …
2. 遺伝性低リン血症性くる病と腫瘍誘発性骨軟化症hereditary hypophosphatemic rickets and tumor induced osteomalacia [show details]
…the disease may manifest with dense vertebral bodies and has presented in middle age as a sclerosing bone dysplasia . Studies in a mouse knockout of the DMP1 gene suggest a lowered set point for phosphate …
3. 成人における難聴の病因etiology of hearing loss in adults [show details]
…round windows . Other oral antibiotics that can cause ototoxicity include erythromycin and tetracycline. These drugs have a more pronounced ototoxic effect in patients with impaired kidney function…
4. 原発性免疫不全の胃腸症状gastrointestinal manifestations in primary immunodeficiency [show details]
…GI autoimmune disorders include pernicious anemia, chronic autoimmune hepatitis, and autoimmune sclerosing cholangitis. These are mainly reported in antibody-deficient patients. Nodular lymphoid hyperplasia … a unique defect in ribosome synthesis due to SDS gene mutation presenting with pancytopenia, chondrodysplasia, and chemotactic dysfunction of neutrophils. Patients can present with diarrhea and malabsorption …
5. 歯の発達障害developmental defects of the teeth [show details]
…birthday. Although environmental factors can affect the development of dentin (eg, staining with tetracycline), genetic factors are more commonly the cause. Dentin malformations that affect the form and function…

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骨硬化性骨幹端異形成症の原因遺伝子を発見 | 60秒でわかる [转]口腔影像图片 – 【人人分享-人人网】脳病変（SEGA、大脳皮質結節、SEN等）【医療者向け情報】 | 各論の症例 25 線維性骨異形成症てんかん｜東邦大学医療センター佐倉病院脳神経内科遺伝性骨形成異常症はスコティッシュフォールドが要注意＞診断：線維性骨異形成症（ fibrous dysplasia ）