Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura-Reference-Cited by-同舟云学术

Pathogenicity of POFUT1 in Dowling-Degos Disease: Additional Mutations and Clinical Overlap with Reticulate Acropigmentation of Kitamura

Published:2015-02 Issue:2 Volume:135 Page:615-618
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Buket Basmanav F.,Fritz Günter,Lestringant Gilles G.,Pachat Divya,Hoffjan Sabine,Fischer Johannes,Wehner Maria,Wolf Sabrina,Thiele Holger,Altmüller Janine,Pulimood Susanne A.,Rütten Arno,Kruse Roland,Hanneken Sandra,Frank Jorge,Danda Sumita,Bygum Anette,Betz Regina C.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference11 articles.

1. Mutations in POGLUT1, encoding protein O-glucosyltransferase 1, cause autosomal-dominant Dowling-Degos Disease;Basmanav;Am J Hum Genet,2014

2. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease;Betz;Am J Hum Genet,2006

3. Dowling-Degos disease and Kitamura’s reticulate acropigmentation: support for the concept of a single disease;Cox;Br J Dermatol,1991

4. Reticulate acropigmentation of Kitamura;Griffiths;Br J Dermatol,1976

5. Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease;Kono;Hum Mol Genet,2013

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