A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair
CLINICAL AND EXPERIMENTAL DERMATOLOGY(2023)
摘要
ILVASC (ichthyosis, leukocyte vacuoles, alopecia and sclerosing cholangitis) is an extremely rare autosomal recessive syndromic ichthyosis. Herein we report on a Chinese ILVASC case with a novel phenotype of curly hair caused by a previously unrecorded homozygous mutation in CLDN1.
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关键词
ilvasc
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