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A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy.
Vaz, Raquel; Wincent, Josephine; Elfissi, Najla; Rosengren Forsblad, Kristina; Pettersson, Maria; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Lindstrand, Anna; Ygberg, Sofia.
Affiliation
  • Vaz R; Department of Molecular Medicine and Surgery, Karolinska Institute, 17177 Stockholm, Sweden.
  • Wincent J; Department of Molecular Medicine and Surgery, Karolinska Institute, 17177 Stockholm, Sweden.
  • Elfissi N; Department of Clinical Genetics, Karolinska University Hospital, 17177 Stockholm, Sweden.
  • Rosengren Forsblad K; Department of Medical Biochemistry and Biophysics, Karolinska Institute, 17177 Stockholm, Sweden.
  • Pettersson M; Akademiska Sjukhuset, 75185 Uppsala, Sweden.
  • Naess K; Department of Molecular Medicine and Surgery, Karolinska Institute, 17177 Stockholm, Sweden.
  • Wedell A; Department of Clinical Genetics, Karolinska University Hospital, 17177 Stockholm, Sweden.
  • Wredenberg A; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17177 Stockholm, Sweden.
  • Lindstrand A; Department of Molecular Medicine and Surgery, Karolinska Institute, 17177 Stockholm, Sweden.
  • Ygberg S; Centre for Inherited Metabolic Diseases, Karolinska University Hospital, 17177 Stockholm, Sweden.
Biomedicines ; 10(12)2022 Dec 07.
Article in En | MEDLINE | ID: mdl-36551928
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Biomedicines Year: 2022 Type: Article Affiliation country: Sweden
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Type of study: Prognostic_studies / Risk_factors_studies Language: En Journal: Biomedicines Year: 2022 Type: Article Affiliation country: Sweden