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Updated Mutational Spectrum and Genotype-Phenotype Correlations in Ichthyosis Patients with ABCA12 Pathogenic Variants.

Tatsuhiro Noda,Takuya Takeichi,Kana Tanahashi,Yasushi Ogawa,So Takeuchi,Takenori Yoshikawa, Erika Toriyama,Miwa Ashida,Sumihisa Imakado,Hitoshi Tsuchihashi,Takashi Okamoto,Yusuke Okuno,Tomoo Ogi,Kazumitsu Sugiura,Akiharu Kubo,Yoshinao Muro,Yasushi Suga,Akemi Ishida-Yamamoto,Masashi Akiyama

Experimental Dermatology（2024）

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关键词
ATP-binding cassette,autosomal recessive congenital ichthyosis,congenital ichthyosiform erythroderma,harlequin ichthyosis,lamellar ichthyosis
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