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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.
Kalinska-Bienias, Agnieszka; Pollak, Agnieszka; Kowalewski, Cezary; Lechowicz, Urszula; Stawinski, Piotr; Gergont, Aleksandra; Kosinska, Joanna; Pronicka, Ewa; Kowalski, Pawel; Wozniak, Katarzyna; Ploski, Rafal.
Affiliation
  • Kalinska-Bienias A; Department of Dermatology and Immunodermatology, Medical University of Warsaw, Warsaw, Poland.
  • Pollak A; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Kowalewski C; Department of Dermatology and Immunodermatology, Medical University of Warsaw, Warsaw, Poland.
  • Lechowicz U; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Stawinski P; Department of Genetics, Institute of Physiology and Pathology of Hearing, Warsaw, Poland.
  • Gergont A; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Kosinska J; Chair of Children and Adolescents' Neurology, University Children's Hospital, Jagiellonian University Medical College, Krakow, Poland.
  • Pronicka E; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Kowalski P; The Children's Memorial Health Institute, Warsaw, Poland.
  • Wozniak K; The Children's Memorial Health Institute, Warsaw, Poland.
  • Ploski R; Department of Dermatology and Immunodermatology, Medical University of Warsaw, Warsaw, Poland.
Am J Med Genet A ; 173(11): 3093-3097, 2017 Nov.
Article in En | MEDLINE | ID: mdl-28944608
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy, Hereditary, Leber / Keratin-10 / Genome, Mitochondrial / Ichthyosis Limits: Adolescent / Humans / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Optic Atrophy, Hereditary, Leber / Keratin-10 / Genome, Mitochondrial / Ichthyosis Limits: Adolescent / Humans / Male / Newborn Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2017 Document type: Article Affiliation country: