Two SMARCAD1 Variants Causing Basan Syndrome in a Canadian and a Dutch Family

• Main Authors: Youssef Elhaji (Author), Tessa M.A. van Henten (Author), Claudia A.L. Ruivenkamp (Author), Mathew Nightingale (Author), Gijs WE Santen (Author), Lydia E. Vos (Author), Peter R. Hull (Author)
• 格式: 图书
• 出版: Elsevier, 2021-09-01T00:00:00Z.
• 主题: article
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Basan syndrome is an autosomal dominant genodermatosis characterized by congenital adermatoglyphia, transient congenital facial milia, neonatal acral bullae, and absent or reduced sweating. Basan syndrome is rare and has been reported in only 10 kindreds worldwide. It is caused by variants in the sk...