A path through the reticulate pigmentation disorder jungle
Author:
Affiliation:
1. Institute of Human Genetics; University of Bonn; Sigmund-Freud-Str. 25 D-53127 Bonn Germany
Publisher
Wiley
Subject
Dermatology
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1111/bjd.15805/fullpdf
Reference7 articles.
1. Updated review of genetic reticulate pigmentary disorders;Zhang;Br J Dermatol,2017
2. The genetic basis of epidermolysis bullosa simplex with mottled pigmentation;Uttam;Proc Natl Acad Sci U S A,1996
3. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease;Betz;Am J Hum Genet,2006
4. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease;Li;Am J Hum Genet,2013
5. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos disease;Basmanav;Am J Hum Genet,2014
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