Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis
Takuya Takeichi, Kazumitsu Sugiura, Chao‐Kai Hsu, Kana Tanahashi, Hiroyuki Takama, Michael A. Simpson, John A. McGrath, Masashi Akiyama
Abstract
Takuya Takeichi, Kazumitsu Sugiura, Chao‐Kai Hsu, Kana Tanahashi, Hiroyuki Takama, Michael A. Simpson, John A. McGrath, Masashi Akiyama
Abstract
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Key concepts: Steroid sulfatase, Ichthyosis, Lamellar ichthyosis, Genetics, Phenotype, Medicine, Biology, Molecular biology