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中文Shaheen Syndrome (SHNS)
Alias:
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome
Shns
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沙赫恩综合症，又称低汗症-釉质发育不良-掌跖角化-智力障碍综合症，与厚皮性先天性角化病3有关。沙赫恩综合症的一个重要基因是COG6（寡聚高尔基体复合物6的成分）。相关组织包括皮肤和前列腺，相关表型为智力障碍和反复呼吸道感染。
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MALACARDS
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