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Targeted copy number screening highlights an intragenic deletion of WDR63 as the likely cause of human occipital encephalocele and abnormal CNS development in zebrafish.
Hofmeister, Wolfgang; Pettersson, Maria; Kurtoglu, Deniz; Armenio, Miriam; Eisfeldt, Jesper; Papadogiannakis, Nikos; Gustavsson, Peter; Lindstrand, Anna.
Affiliation
  • Hofmeister W; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Pettersson M; Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Kurtoglu D; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Armenio M; Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Eisfeldt J; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Papadogiannakis N; Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
  • Gustavsson P; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden.
  • Lindstrand A; Centre of Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Hum Mutat ; 39(4): 495-505, 2018 04.
Article in En | MEDLINE | ID: mdl-29285825
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Gene Deletion / Intracellular Signaling Peptides and Proteins / Encephalocele Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Animals / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Sweden Country of publication: United States
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Exons / Gene Deletion / Intracellular Signaling Peptides and Proteins / Encephalocele Type of study: Diagnostic_studies / Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies / Screening_studies Limits: Animals / Female / Humans / Male Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2018 Document type: Article Affiliation country: Sweden Country of publication: United States