학술논문
Milia: a useful clinical marker of CYLD mutation carrier status.
Document Type
Case Study
Author
Source
Subject
*GENETIC mutation
*RNA splicing
*HAIR follicles
*EXONS (Genetics)
*INFUNDIBULUM (Brain)
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*
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*
Language
ISSN
0307-6938
Abstract
The article presents a case study of a family in which the presence of milia was the only clinical feature in one individual who was a CYLD mutation carrier and had scalp lesions and one had facial papules. It mentions identification of novel canonical splice acceptor site mutation preceding exon 20 in the proband and milia arise from the infundibulum of the hair follicle. It also mentions Germline CYLD mutation associated with phenotypes such as Brooke–Spiegler syndrome.