Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation-Reference-Cited by-同舟云学术

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Atypical presentation of dyschromatosis universalis hereditaria with a novel ABCB6 mutation

Published:2018-11-14 Issue:3 Volume:44 Page:e58-e60
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Zhong W.¹²,Pan Y.¹²,Shao Y.³,Yang Y.¹²⁴,Yu B.³,Lin Z.¹²^ORCID

Affiliation:

1. Department of Dermatology; Peking University First Hospital; Beijing 100034 China

2. Beijing Key Laboratory of Molecular Diagnosis on Dermatoses; Beijing China

3. Department of Dermatology; Peking University Shenzhen Hospital; Shenzhen Guangdong 518036 China

4. Peking-Tsinghua Center for Life Sciences; Beijing 100871 China

Funder

National Natural Science Foundation of China

China National Funds for Excellent Young Scientists

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.13833/fullpdf

Reference5 articles.

1. Mutations in ABCB6 cause dyschromatosis universalis hereditaria;Zhang;J Invest Dermatol,2013

2. Updated review of genetic reticulate pigmentary disorders;Zhang;Br J Dermatol,2017

3. Case report of dyschromatosis universalis hereditaria (DUH) with primary ovarian failure (POF);Jayanthi;J Clin Diagn Res,2016

4. Novel missense mutations of ABCB6 in two chinese families with dyschromatosis universalis hereditaria;Lu;J Dermatol Sci,2014

5. A case of xeroderma pigmentosum complementation group C with diverse clinical features;Masaki;Br J Dermatol,2018

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1. SASH1 impairs melanin synthesis and metastasis by down-regulating the TGF-β signaling pathway;2024-05-26

2. A Young Boy with Hyperpigmented and Hypopigmented Macules;Clinical Cases in Dermatology;2022

3. Novel missense mutation of SASH1 in a Chinese family with dyschromatosis universalis hereditaria;BMC Medical Genomics;2021-06-26

4. Identification of two novel mutations in the PLCD1 gene in Chinese patients with hereditary leukonychia;Molecular Medicine Reports;2021-03-30

5. Identification of a Novel Mutation in SASH1 Gene in a Chinese Family With Dyschromatosis Universalis Hereditaria and Genotype-Phenotype Correlation Analysis;Frontiers in Genetics;2020-08-04

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