由 CAST 基因中的新型致病变异引起的两名无血缘关系印度儿童的 PLACK 综合征。

IF 1.2 4区医学 Q3 DERMATOLOGY

Pediatric Dermatology Pub Date : 2025-02-11 DOI:10.1111/pde.15823

Sahana M Srinivas, Shashikumar Basavapura

引用次数: 0

摘要

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PLACK Syndrome in Two Unrelated Indian Children Caused by Novel Pathogenic Variants in the CAST Gene.

PLACK syndrome is an autosomal recessively inherited genodermatosis characterized by peeling skin, leukonychia, acral keratoses, cheilitis, and knuckle pads caused by variants in CAST gene. This report describe two unrelated Indian children with typical features of PLACK syndrome and homozygous novel variants in the CAST gene.

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来源期刊

Pediatric Dermatology 医学-皮肤病学

CiteScore

3.20

自引率

6.70%

发文量

269

审稿时长

1 months

期刊介绍： Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.