A novel CLDN1 variant identified in a case of ILVASC with sparse curly hair

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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