Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum
Salvato in:
| Altri autori: | , |
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| Natura: | Article (Journal) |
| Lingua: | inglese |
| Pubblicazione: |
2014
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| In: |
Journal of medical genetics
Year: 2014, Volume: 51, Fascicolo: 6, Pages: 375-387 |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmedgenet-2013-102248 |
| Accesso online: | Verlag, Volltext: http://dx.doi.org/10.1136/jmedgenet-2013-102248
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| Note sull'autore: | Anne Thorwarth, Sarah Schnittert-Hübener, Pamela Schrumpf, Ines Müller, Sabine Jyrch, Christof Dame, Heike Biebermann, Gunnar Kleinau, Juri Katchanov, Markus Schuelke, Grit Ebert, Anne Steininger, Carsten Bönnemann, Knut Brockmann, Hans-Jürgen Christen, Patricia Crock, Francis de Zegher, Matthias Griese, Jacqueline Hewitt, Sten Ivarsson, Christoph Hübner, Klaus Kapelari, Barbara Plecko, Dietz Rating, Iva Stoeva, Hans-Hilger Ropers, Annette Grüters, Reinhard Ullmann, Heiko Krude |
| Descrizione del documento: | Gesehen am 21.10.2015 |
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| Descrizione fisica: | Online Resource |
| ISSN: | 1468-6244 |
| DOI: | 10.1136/jmedgenet-2013-102248 |