Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne...
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
About this item
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Author / Creator
Ralser, Damian J , Basmanav, F Buket Ü , Tafazzoli, Aylar , Wititsuwannakul, Jade , Delker, Sarah , Danda, Sumita , Thiele, Holger , Wolf, Sabrina , Busch, Michélle , Pulimood, Susanne A , Altmüller, Janine , Nürnberg, Peter , Lacombe, Didier , Hillen, Uwe , Wenzel, Jörg , Frank, Jorge , Odermatt, Benjamin and Betz, Regina C
Publisher
United States: American Society for Clinical Investigation
Journal title
Language
English
Formats
Publication information
Publisher
United States: American Society for Clinical Investigation
Subjects
More information
Scope and Contents
Contents
Dowling-Degos disease (DDD) is an autosomal-dominant disorder of skin pigmentation associated with mutations in keratin 5 (KRT5), protein O-fucosyltransferase 1 (POFUT1), or protein O-glucosyltransferase 1 (POGLUT1). Here, we have identified 6 heterozygous truncating mutations in PSENEN, encoding presenilin enhancer protein 2, in 6 unrelated patien...
Alternative Titles
Full title
Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa
Authors, Artists and Contributors
Author / Creator
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5373890
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5373890
Other Identifiers
ISSN
0021-9738
E-ISSN
1558-8238
DOI
10.1172/JCI90667
