Expanded mutational spectrum in cohen syndrome, tissue expression, and transcript variants of COH1

W Seifert, M Holder-Espinasse, J Kuhnisch, K Kahrizi, A Tzschach, M Garhasbi, H Najmabadi, A Walter Kuss, W Kress, G Laureys, B Loeys, E Brilstra, Grazia Verheijen - Mancini, H Dollfus, K Dahan, K Apse, H Christian Hennies, D Horn

Research output: Contribution to journalArticleAcademicpeer-review

34 Citations (Scopus)
Original languageUndefined/Unknown
Pages (from-to)E404-E420
JournalHuman Mutation
Publication statusPublished - 2009

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