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The PERIOPTER syndrome (periorificial and ptychotropic erythrokeratoderma): a new Mendelian disorder of cornification.
Published in:
2019
By:
- Bursztejn, A.‐C.;
- Charbit, L.;
- Happle, R.;
- Küsel, J.;
- Zimmer, A.;
- Fischer, J.;
- Leclerc‐Mercier, S.;
- Hadj‐Rabia, S.;
- Fraitag, S.
Publication type:
Letter to the Editor
Skin fragility caused by biallelic KRT10 mutations: an intriguing form of self‐improving epidermolytic ichthyosis.
Published in:
British Journal of Dermatology, 2020, v. 182, n. 3, p. 780, doi. 10.1111/bjd.18325
By:
- Frommherz, L.;
- Küsel, J.;
- Zimmer, A.;
- Fischer, J.;
- Has, C.
Publication type:
Article
Extending the phenotypic spectrum associated with mosaicism for GJB2 mutations.
Published in:
British Journal of Dermatology, 2019, v. 181, n. 3, p. 623, doi. 10.1111/bjd.17838
By:
- Has, C.;
- Küsel, J.;
- Happle, R.;
- Steinke, H.;
- Technau‐Hafsi, K.;
- Fischer, J.
Publication type:
Article
Alitretinoin in punctate palmoplantar keratoderma.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 4, p. 931, doi. 10.1111/bjd.17336
By:
- Yilmaz, P.;
- Medvecz, M.;
- Kohlhase, J.;
- Küsel, J.;
- Fischer, J.;
- Has, C.
Publication type:
Article
局灶性真皮发育不全女性中的嵌合现象.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 3, p. e97, doi. 10.1111/bjd.17569
By:
- Heinz, L.;
- Bourrat, E.;
- Vabres, P.;
- Thevenon, J.;
- Hotz, A.;
- Hörer, S.;
- Küsel, J.;
- Zimmer, A.D.;
- Alter, S.;
- Happle, R.;
- Fischer, J.
Publication type:
Article
Mosaicism in women with focal dermal hypoplasia.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 3, p. e81, doi. 10.1111/bjd.17553
By:
- Heinz, L.;
- Bourrat, E.;
- Vabres, P.;
- Thevenon, J.;
- Hotz, A.;
- Hörer, S.;
- Küsel, J.;
- Zimmer, A.D.;
- Alter, S.;
- Happle, R.;
- Fischer, J.
Publication type:
Article
Mosaicism due to postzygotic mutations in women with focal dermal hypoplasia.
Published in:
British Journal of Dermatology, 2019, v. 180, n. 3, p. 657, doi. 10.1111/bjd.17024
By:
- Heinz, L.;
- Bourrat, E.;
- Vabres, P.;
- Thevenon, J.;
- Hotz, A.;
- Hörer, S.;
- Küsel, J.;
- Zimmer, A.D.;
- Alter, S.;
- Happle, R.;
- Fischer, J.
Publication type:
Article
Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function.
Published in:
British Journal of Dermatology, 2017, v. 177, n. 2, p. 445, doi. 10.1111/bjd.15308
By:
- Zimmer, A.D.;
- Kim, G.J.;
- Hotz, A.;
- Bourrat, E.;
- Hausser, I.;
- Has, C.;
- Oji, V.;
- Stieler, K.;
- Vahlquist, A.;
- Kunde, V.;
- Weber, B.;
- Radner, F.P.W.;
- Leclerc ‐ Mercier, S.;
- Schlipf, N.;
- Demmer, P.;
- Küsel, J.;
- Fischer, J.
Publication type:
Article

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