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中文Progeroid Short Stature with Pigmented Nevi
Alias:
Mulvihill-Smith Syndrome
Progeria-Short Stature-Pigmented Nevi Syndrome
Progeria Short Stature Pigmented Nevi
Cockayne Syndrome
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早老性矮小症伴有色素性皮疹，也称为Mulvihill-Smith综合征，与Clark-Baraitser综合征和小头畸形有关，症状包括未指明的视力丧失。在该疾病的背景下提到了西罗莫司和山梨醇。附属组织包括皮肤和丘脑，相关表型为骨质疏松和色素性皮疹
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