Whole-Exome Sequencing in 10 Unrelated Patients with Syndromic Hidradenitis Suppurativa: A Preliminary Step for a Genotype-Phenotype Correlation.

Angelo Valerio Marzano,Giovanni Genovese,Chiara Moltrasio,Paola Maura Tricarico,Rossella Gratton,Stefano Piaserico,Simone Garcovich,Michele Boniotto,Lucas Brandão,Ronald Moura,Sergio Crovella

Dermatology (Basel, Switzerland)（2022）

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摘要

Syndromic HS can be considered as a polygenic autoinflammatory condition; currently WES is a diagnostic tool allowing more accurate genotype-phenotype correlation.

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关键词

Acne,Arthritis,Autoinflammation,Gut inflammation,Hidradenitis suppurativa,Keratinization,Pyoderma gangrenosum,Whole-exome sequencing

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