一名青少年出现屈侧和肢端色素沉着性网状斑患者的新型突变。 - Suppr

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超能文献

Novel mutation in patient with flexural and acral hyperpigmented reticulated macules presenting in adolescence.

作者信息

Kiuru Maija, Terrell Jessica R, Gorouhi Farzam, McPherson John D

机构信息

Department of Dermatology, University of California, Davis, Sacramento, California.

Department of Pathology and Laboratory Medicine, University of California, Davis, Sacramento, California.

出版信息

JAAD Case Rep. 2020 Mar 26;6(4):334-336. doi: 10.1016/j.jdcr.2020.02.016. eCollection 2020 Apr.

DOI:10.1016/j.jdcr.2020.02.016

PMID:32258313

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7109565/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2d40/7109565/fa0acfbfab79/gr1.jpg

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Am J Hum Genet. 2014 Jan 2;94(1):135-43. doi: 10.1016/j.ajhg.2013.12.003.

Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease.

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