Scrotal Dowling–Degos disease caused by a novel frameshift variant in gamma‐secretase subunit presenile enhancer gene-Reference-Cited by-同舟云学术

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Scrotal Dowling–Degos disease caused by a novel frameshift variant in gamma‐secretase subunit presenile enhancer gene

Published:2020-06 Issue:4 Volume:61 Page:
ISSN:0004-8380
Container-title:Australasian Journal of Dermatology
language:en
Short-container-title:Australas J Dermatol

Author:

Ren Jun¹^ORCID,Zeng Li‐yue¹

Affiliation:

1. Department of Dermatology Zhongshan Hospital Xiamen University Xiamen Fujian China

Funder

key Clinical Specialty Discipline Construction Program of Fujian, P.R.C.

Publisher

Wiley

Subject

Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ajd.13316

Reference10 articles.

1. Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

2. Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

3. Mutations in POGLUT1, Encoding Protein O-Glucosyltransferase 1, Cause Autosomal-Dominant Dowling-Degos Disease

4. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa

5. Mast cell activation in Dowling–Degos disease

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. An algorithmic approach towards diagnosis of patients with hereditary reticulate pigmentary disorders: a narrative review;Clinical and Experimental Dermatology;2024-08-14

2. A loss‐of‐function NCSTN mutation associated with familial Dowling Degos disease and hidradenitis suppurativa;Experimental Dermatology;2023-09-04

3. The Genomic Architecture of Hidradenitis Suppurativa—A Systematic Review;Frontiers in Genetics;2022-03-23

4. Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart?;Journal of Investigative Dermatology;2021-05

5. Dowling‐Degos disease: a review;International Journal of Dermatology;2020-12-23

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