| 1 | ACNINV2, PSENEN
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| A phenotype combining hidradenitis suppurativa with Dowling-Degos disease caused by a founder mutation in PSENEN.
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| Pavlovsky M, Sarig O, Eskin-Schwartz M, Malchin N, Bochner R, Mohamad J, Gat A, Peled A, Hafner A, Sprecher E.
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| Br J Dermatol 178(2):502-508. doi: 10.1111/bjd.16000. Epub 2017 Dec 18.
2018
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| 2 | ACNINV2, PSENEN
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| Mutations in γ-secretase subunit-encoding PSENEN underlie Dowling-Degos disease associated with acne inversa.
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| Ralser DJ, Basmanav FB, Tafazzoli A, Wititsuwannakul J, Delker S, Danda S, Thiele H, Wolf S, Busch M, Pulimood SA, Altmüller J, Nürnberg P, Lacombe D, Hillen U, Wenzel J, Frank J, Odermatt B, Betz RC.
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| J Clin Invest 127(4):1485-1490. doi: 10.1172/JCI90667. Epub 2017 Mar 13.
2017
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| 3 | ACNINV2, PSENEN
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| PSENEN c.66delG in sporadic acne inversa.
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| Liu Y, Miao T, Ma J, Shao L, Luo S, Li Y, Liu Q.
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| Eur J Dermatol 26(3):298-9. doi: 10.1684/ejd.2016.2742. No abstract available.
2016
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| 4 | ACNINV2, PSENEN
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| Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).
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| Pink AE, Simpson MA, Desai N, Dafou D, Hills A, Mortimer P, Smith CH, Trembath RC, Barker JNW.
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| J Invest Dermatol 132(10):2459-2461. doi: 10.1038/jid.2012.162. Epub 2012 May 24. No abstract available.
2012
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| 5 | ACNINV2, PSENEN
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| Gamma-secretase gene mutations in familial acne inversa.
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| Wang B, Yang W, Wen W, Sun J, Su B, Liu B, Ma D, Lv D, Wen Y, Qu T, Chen M, Sun M, Shen Y, Zhang X.
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| Science 330(6007):1065. doi: 10.1126/science.1196284. Epub 2010 Oct 7.
2010
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