Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of theU2HRandEPS8L3genes-Reference-Cited by-同舟云学术

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Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of theU2HRandEPS8L3genes

Published:2013-11-16 Issue:2 Volume:39 Page:225-227
ISSN:0307-6938
Container-title:Clinical and Experimental Dermatology
language:en
Short-container-title:Clin Exp Dermatol

Author:

Li Q.¹²,Liu L. H.¹²,Chang R. X.¹²,Pan G. B.¹²,Chen G.¹²,Gao M.¹²,Cai L. Q.¹²,Wang P. G.¹²,Pimentel J. D.¹²,Pittelkow M. R.¹²,Yang S.¹²,Zhang X. J.¹²

Affiliation:

1. Department of Dermatology; Institute of Dermatology; No. 1 Hospital, Anhui Medical University, No. 81, Meishan Road; Hefei Anhui 230032 China

2. State Key Laboratory Incubation Base of Dermatology; Ministry of National Science and Technology; No. 81, Meishan Road, Hefei Anhui 230032 China

Publisher

Wiley

Subject

Dermatology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/ced.12245/fullpdf

Reference5 articles.

1. Uber hypotrichosis congenita hereditaria;Unna;Dermatol Wochenschr,1925

2. Marie Unna hereditary hypotrichosis: identification of a U2HR mutation in the family from the original 1925 report;Redler;J Am Acad Dermatol,2011

3. Loss-of-function mutations of an inhibitory upstream ORF in the human hairless transcript cause Marie Unna hereditary hypotrichosis;Wen;Nat Genet,2009

4. Exome sequencing identified a missense mutation of EPS8L3 in Marie Unna hereditary hypotrichosis;Zhang;J Med Genet,2012

5. A newly identified missense mutation of the HR gene is associated with a novel, unusual phenotype of Marie Unna hereditary hypotrichosis 1 including limb deformities;Farkas;Arch Dermatol Res,2011

Cited by 2 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. Identification of mutations inU2HRin two Chinese families with Marie Unna hereditary hypotrichosis;Clinical and Experimental Dermatology;2015-08-12

2. Alopecia en la infancia;Anales de Pediatría Continuada;2014-07

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