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中文Basan Syndrome (BSNS)
Alias:
Adermatoglyphia with Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities
Ectodermal Dysplasia, Absent Dermatoglyphic Pattern, Changes in Nails, and Simian Crease
Adermatoglyphia, Congenital Facial Milia, Acral Blisters, Digital Contractures, Nail Abnormalities
Bsns
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巴桑综合症，又称先天性面部米粒样丘疹和掌跖水疱、皮肤挛缩、指甲异常和掌跖融合综合征1a和无汗症，与皮肤挛缩、翼状胬肉和脊柱-骨盆-足底融合综合征有关。巴桑综合症相关的重要基因是SMARCAD1（SWI/SNF相关矩阵相关肌动蛋白依赖性染色质调节因子亚家族A，含DEAD/H盒1），其相关通路/超级通路包括AMPK酶复合物通路和染色质调节/乙酰化。相关组织包括皮肤和唾液腺，相关表型包括足趾皮肤并指和米粒样丘疹
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MALACARDS
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