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Article

A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype.

Clinical and experimental dermatology - 1 Jun 2020

Chen F, Wang J, Yao Z, Li M

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PMID: 31646662
DOI: 10.1111/ced.14114

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A novel MBTPS2 start codon mutation causes a mild ichthyosis follicularis with atrichia and photophobia phenotype.PMID 31646662Read ↗

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A novel mutation in MBTPS2 causes a broad phenotypic spectrum of ichthyosis follicularis, atrichia, and photophobia syndrome in a large Chinese family.Semantic proximity Read ↗

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