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中文Barber-Say Syndrome (BBRSAY)
Alias:
Hypertrichosis-Atrophic Skin-Ectropion-Macrostomia Syndrome
Hypertrichosis, Atrophic Skin, Ectropion, and Macrostomia
Barber Say Syndrome
Bbrsay
Bss
Hypertrichosis Atrophic Skin Ectropion Macrostomia
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巴贝-萨伊综合症，又称过度毛发-萎缩性皮肤-外翻-巨口综合症，与伯纳德-索尔综合症和布鲁克-斯皮格勒综合症有关，症状包括皮肤干燥。与巴贝-萨伊综合症有关的重要基因是TWIST2（扭曲家族BHLH转录因子2）。附属组织包括皮肤和眼睛，相关表型为发育不良和听力障碍。
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