Associated Papers
Insights from γ-Secretase: Functional Genetics of Hidradenitis Suppurativa.
Vellaichamy G et al.
The Journal of Investigative Dermatology, 2021
Comorbidities or different entities? Phenotype variability associated with PSENEN mutations.
Li W et al.
The British Journal of Dermatology, 2019
Abstracts of the 7th European Hidradenitis Suppurativa Foundation (EHSF) Congress, 7-9 February 2018, Rotterdam, The Netherlands.
Unknown Author
Experimental Dermatology, 2018
PSENEN Mutation Carriers with Co-manifestation of Acne Inversa (AI) and Dowling-Degos Disease (DDD): Is AI or DDD the Subphenotype?
Li C et al.
The Journal of Investigative Dermatology, 2017
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
Ralser DJ et al.
The Journal of Clinical Investigation, 2017
Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.
Zhou C et al.
Chinese Medical Journal, 2016
A Frameshift Mutation in PEN-2 Causes Familial Comedones Syndrome.
Panmontha W et al.
Dermatology (basel, Switzerland), 2015
An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata.
Ratnamala U et al.
Indian Journal of Dermatology, 0
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