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Pathogenic REST variant causing Jones syndrome and a review of the literature.
Rahikkala, Elisa; Julku, Johanna; Koskinen, Sari; Keski-Filppula, Tommi; Weissgraeber, Stephanie; Bertoli-Avella, Aida M; Häkli, Sanna; Kraatari-Tiri, Minna.
  • Rahikkala E; PEDEGO Research Unit, University of Oulu, Oulu, Finland. elisa.rahikkala@ppshp.fi.
  • Julku J; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland. elisa.rahikkala@ppshp.fi.
  • Koskinen S; Department of Oral and Maxillofacial Diseases, Oulu University Hospital, Oulu, Finland.
  • Keski-Filppula T; Department of Oral and Maxillofacial Diseases, Oulu University Hospital, Oulu, Finland.
  • Weissgraeber S; PEDEGO Research Unit, University of Oulu, Oulu, Finland.
  • Bertoli-Avella AM; Department of Clinical Genetics and Medical Research Center, Oulu University Hospital, Oulu, Finland.
  • Häkli S; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany.
  • Kraatari-Tiri M; Department of Medical Reporting and Genomics, Centogene GmbH, Rostock, Germany.
Eur J Hum Genet ; 31(4): 469-473, 2023 04.
Article en En | MEDLINE | ID: mdl-36509837
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sordera / Fibromatosis Gingival / Pérdida Auditiva Sensorineural Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Sordera / Fibromatosis Gingival / Pérdida Auditiva Sensorineural Tipo de estudio: Prognostic_studies Límite: Humans Idioma: En Año: 2023 Tipo del documento: Article