Case report: Multiple facial trichoepitheliomas caused by p.Val835SerfsTer52 variant of CYLD gene

SummaryBrooke–Spiegler syndrome (BSS) is an autosomal dominant disease associated with the CYLD gene, which manifests itself as multiple benign skin tumors. We presented a young female patient with a previously undescribed heterozygous de novo mutation c.2501dupC (p.Val835SerfsTer52) of the CYLD gen...

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Autors principals:	Tatiana A. Gaydina, Olga I. Patsap, Anastasiia A. Buianova
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2024-09-01
Col·lecció:	Frontiers in Medicine
Matèries:	multiple trichoepitheliomas Brooke–Spiegler syndrome CYLD c.2501dupC p.Val835SerfsTer52
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fmed.2024.1458723/full
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