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-Reference-Cited by-同舟云学术

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

Published:2012-05-15 Issue:8 Volume:304 Page:679-681
ISSN:0340-3696
Container-title:Archives of Dermatological Research
language:en
Short-container-title:Arch Dermatol Res

Author:

Farkas Katalin,Nagy Nikoletta,Kinyó Ágnes,Kemény Lajos,Széll Márta

Publisher

Springer Science and Business Media LLC

Subject

Dermatology,General Medicine

Link

http://link.springer.com/content/pdf/10.1007/s00403-012-1244-2.pdf

Reference9 articles.

1. Argenziano G, Sammarco E, Rossi A et al (1999) Marie Unna hereditary hypothrichosis. Europ J Dermatol 9:278–280

2. Bentley-Phillips B, Grace HJ (1979) Hereditary hypotrichosis: a previously undescribed syndrome. Br J Dermatol 101:331–339

3. Cai LQ, Wang PG, Gao M et al (2009) A novel U2HR non-synonymous mutation in aChinese patient with Marie Unna Hereditary Hypotrichosis. J Dermatol Sci 55:125–127

4. Mansur AT, Elcioglu NH, Redler S et al (2010) Marie Unna hereditary hypothrichosis: a Turkish family with loss of eyebrows and a U2HR mutation. Am J Med Genet 152A:2628–2633

5. Ramot Y, Horev L, Smolovich I et al (2010) Marie Unna hereditary hypotrichosis caused by a novel mutation in the human hairless transcript. Exp Dermatol 19:320–322

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2. Disease causing homozygous variants in the human hairless gene;International Journal of Dermatology;2015-12-18

3. Identification of a novelU2HRmutation in a Korean woman with Marie Unna hereditary hypotrichosis;International Journal of Dermatology;2014-06-25

4. Marie Unna hereditary hypotrichosis: a recurrent c.74C>T mutation in theU2HRgene and literature review;International Journal of Dermatology;2013-11-21

5. Two cases of Marie Unna hereditary hypotrichosis: clinical features and mutation analysis of theU2HRandEPS8L3genes;Clinical and Experimental Dermatology;2013-11-16