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

作者：Cai, Liangqi^*; Lin, Zhimiao; Wang, Huijun

来源：Clinical and Experimental Dermatology, 2023, 48(7): 794-795.

DOI：10.1093/ced/llad071

• ICHTHYOSIS
• MUTATION
• GENE

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.

• 单位
  1; 北京大学; 厦门大学; 南方医科大学