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Article

Novel Mutations in PSENEN Gene in Two Chinese Acne Inversa Families Manifested as Familial Multiple Comedones and Dowling-Degos Disease.

Chinese medical journal - 5 Dec 2016

Zhou Cheng, Wen Guang-Dong, Soe Lwin Myint, Xu Hong-Jun, Du Juan, Zhang Jian-Zhong

Abstract excerpt

BACKGROUND: Acne inversa (AI), also called hidradenitis suppurativa, is a chronic, inflammatory, recurrent skin disease of the hair follicle. Familial AI shows autosomal-dominant inheritance caused by mutations in the γ-secretase genes. This study was aimed to identify the specific mutations in the γ-secretase genes in two Chinese families with AI. METHODS: In this study, two Chinese families with AI were...

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Source

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Identifiers

PMID: 27900998
DOI: 10.4103/0366-6999.194648
PMCID: PMC5146792

Genes

NCSTN
PSEN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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