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Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma by Liisa Harjama, Kaisa Kettunen, Outi Elomaa, Elisabet Einarsdottir, Hannele Heikkilä, Sirpa Kivirikko, Katriina Lappalainen, Janna Saarela, Caroline Alby, Annamari Ranki, Juha Kere, Smail Hadj-Rabia, Katariina Hannula-Jouppi
Published 2020Connect to this object online.
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Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions by Svetlana Vakkilainen, Laura Puhakka, Paula Klemetti, Kaarina Heiskanen, Mikko Seppänen, Mikko Muona, Celine Posseme, Darragh Duffy, Timo Väisänen, Outi Elomaa, Maarit Palomäki, Harri Saxén, Annamari Ranki, Katariina Hannula-Jouppi
Published 2019Connect to this object online.
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