Novel mutation in the CLDN1 gene in a Turkish family with neonatal ichthyosis sclerosing cholangitis (NISCH) syndrome
Kirchmeier, P., Sayar, E., Hotz, A., Hausser, I., Islek, A., Yilmaz, A., Artan, R., Fischer, J.
Published in British journal of dermatology (1951) (01.04.2014)
Published in British journal of dermatology (1951) (01.04.2014)
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Porokeratosis Plantaris, Palmaris et Disseminata Caused by Con- genital Pathogenic Variants in the MVD Gene and Loss of Hetero-zygosity in Affected Skin
Jägle, Sabine, Juratli, Hazem A, Hickman, Geoffroy, Süssmuth, Kira, Boente, Maria C, Kopp, Julia, Kirchmeier, Peter, Zimmer, Andreas, Happle, Rudolf, Bourrat, Emmanuelle, Hamm, Henning, Fischer, Judith
Published in Acta dermato-venereologica (16.02.2021)
Published in Acta dermato-venereologica (16.02.2021)
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