Article

Identification of putative phenotype-modifying genetic factors associated with phenotypic diversity in Brooke-Spiegler syndrome

2019-12-19

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Brooke-Spiegler syndrome (BSS; OMIM 605041) is a rare monogenic skin disease characterized by the development of skin appendage tumors caused by mutations in the <italic>cylindromatosis</italic> <italic>(CYLD)</italic> gene. Despite the described phenotypes and reports of the underlying <italic>CYLD </italic>mutations, it has been difficult to establish genotype...

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Literature Corpus work: f03fbc85-b505-5bab-a562-c49cbb060df1
DOI: 10.21203/rs.2.19321/v1

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