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Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy |
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| Authors: | Agnieszka Kalinska‐Bienias Agnieszka Pollak Cezary Kowalewski Urszula Lechowicz Piotr Stawinski Aleksandra Gergont Joanna Kosinska Ewa Pronicka Pawel Kowalski Katarzyna Wozniak Rafal Ploski |
| Affiliation: | 1. Department of Dermatology and Immunodermatology, Medical University of Warsaw, Warsaw, Poland;2. Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland;3. Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland;4. Chair of Children and Adolescents' Neurology, University Children's Hospital, Jagiellonian University Medical College, Krakow, Poland;5. The Children's Memorial Health Institute, Warsaw, Poland |
| Abstract: | |
| Keywords: | ichthyosis with confetti KRT10 gene Leber's hereditary optic neuropathy whole exome sequencing |