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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Үндсэн зохиолчид:	Tatiana A. Gaydina, Olga I. Patsap, Anastasiia A. Buianova
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Frontiers Media S.A. 2024-09-01
Цуврал:	Frontiers in Medicine
Нөхцлүүд:	multiple trichoepitheliomas Brooke–Spiegler syndrome CYLD c.2501dupC p.Val835SerfsTer52
Онлайн хандалт:	https://www.frontiersin.org/articles/10.3389/fmed.2024.1458723/full
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!