PLACK syndrome caused by novel pathogenic variants in CAST: a case report and literature review

Bin Hu,Zhuoqing Gong, Sha Peng, Huijin Wang,Liuqing Chen,Zhimiao Lin

CLINICAL AND EXPERIMENTAL DERMATOLOGY（2023）

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摘要

We report on a patient with PLACK syndrome carrying compound heterozygous novel variants in CAST, and provide a literature review. PLACK syndrome is an extremely rare skin disease with only 10 cases reported worldwide.

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关键词

novel pathogenic variants,syndrome

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