A novel <i>CLDN1</i> variant identified in a case of ILVASC with sparse curly hair-Reference-Cited by-同舟云学术

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

Published:2023-03-07 Issue:7 Volume:48 Page:794-795
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:

Author:

Cai Liangqi¹,Lin Zhimiao²³⁴,Wang Huijun²^ORCID

Affiliation:

1. Department of Dermatology, The First Affiliated Hospital of Xiamen University , Xiamen, China

2. Dermatology Hospital, Southern Medical University , Guangzhou , China

3. Peking University First Hospital, Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, National Clinical Research Center for Skin and Immune Diseases and NMPA Key Laboratory for Quality Control and Evaluation of Cosmetics , Beijing , China

4. Department of Dermatology, Xiamen Chang Gung Hospital , Xiamen , China

Abstract

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.

Funder

National Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

Dermatology

Link

https://academic.oup.com/ced/advance-article-pdf/doi/10.1093/ced/llad071/50576348/llad071.pdf

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