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中文Rhyns Syndrome (RHYNS)
Alias:
Retinitis Pigmentosa-Hypopituitarism-Nephronophthisis-Skeletal Dysplasia Syndrome
Rhyns
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis and Skeletal Dysplasia Syndrome
Retinitis Pigmentosa, Hypopituitarism, Nephronophthisis, and Mild Skeletal Dysplasia
Retinitis Pigmentosa Syndrome
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瑞恩综合症，又称视网膜色素变性-低垂体-肾小管-骨骼发育不良综合症，与视网膜色素变性后柱性共济失调和骨软骨发育不良-耳聋-视网膜色素变性综合症有关。瑞恩综合症相关的重要基因是TMEM67（跨膜蛋白67）。相关组织包括眼睛和大脑皮层，相关表型为眼睑下垂和骨骼系统异常。
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