Pili annulati in a case of Rothmund-Thomson syndrome with a novel frameshift mutation in RECQL4

J Eur Acad Dermatol Venereol. 2018 Jun;32(6):e221-e223. doi: 10.1111/jdv.14742. Epub 2017 Dec 26.

Authors

B Bhoyrul¹, H Lindsay², R Robinson², J Stahlschmidt³, T Palmer³, S Edward³, S M Clark¹

Affiliations

¹ Department of Dermatology, Chapel Allerton Hospital, Chapeltown Road, Leeds, UK.
² Leeds Genetics Laboratory, St James's University Hospital, Beckett Street, Leeds, UK.
³ Department of Histopathology, St James's University Hospital, Beckett Street, Leeds, Uk.

PMID: 29224249
DOI: 10.1111/jdv.14742

No abstract available

Publication types

Case Reports
Letter

MeSH terms

Facial Dermatoses / diagnosis
Facial Dermatoses / genetics*
Frameshift Mutation
Hair Diseases / complications*
Hair Follicle / abnormalities*
Humans
Infant
Male
RecQ Helicases / genetics*
Rothmund-Thomson Syndrome / complications*
Rothmund-Thomson Syndrome / diagnosis
Rothmund-Thomson Syndrome / genetics*

Substances

RECQL4 protein, human
RecQ Helicases

Supplementary concepts

Pili annulati