Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1
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D. Horn | K. Dahan | M. Holder-Espinasse | G. Mancini | A. Tzschach | H. Dollfus | J. Kühnisch | W. Kress | B. Loeys | K. Kahrizi | H. Najmabadi | E. Brilstra | M. Garshasbi | G. Laureys | W. Seifert | K. Apse | Andreas Walter Kuss | Hans Christian Hennies | M. Holder‐Espinasse