De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias
The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a developmental disorder caused by de novo variants in PHF5A.
Gespeichert in:
| Hauptverfasser: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
6 July 2023
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| In: |
Genetics in medicine
Year: 2023, Jahrgang: 25, Heft: 10, Pages: 1-19 |
| ISSN: | 1530-0366 |
| DOI: | 10.1016/j.gim.2023.100927 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.gim.2023.100927 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360023009401 
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| Verfasserangaben: | Frederike L. Harms, Alexander J.M. Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Christian Casar, Christian Müller, Jikke-Mien F. Niermeijer, Jan Fischer, Arne Jahn, Christoph Hübner, Silvia Majore, Emanuele Agolini, Antonio Novelli, Jasper van der Smagt, Robert Ernst, Ellen van Binsbergen, Grazia M.S. Mancini, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Emma L. Wakeling, Arveen Kamath, Lilian Downie, Lynn Pais, Susan M. White, Bert B.A. de Vries, Kerstin Kutsche |
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| 245 | 1 | 0 | |a De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias |c Frederike L. Harms, Alexander J.M. Dingemans, Maja Hempel, Rolph Pfundt, Tatjana Bierhals, Christian Casar, Christian Müller, Jikke-Mien F. Niermeijer, Jan Fischer, Arne Jahn, Christoph Hübner, Silvia Majore, Emanuele Agolini, Antonio Novelli, Jasper van der Smagt, Robert Ernst, Ellen van Binsbergen, Grazia M.S. Mancini, Marjon van Slegtenhorst, Tahsin Stefan Barakat, Emma L. Wakeling, Arveen Kamath, Lilian Downie, Lynn Pais, Susan M. White, Bert B.A. de Vries, Kerstin Kutsche |
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| 246 | 3 | 3 | |a De novo PHF 5 A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias |
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| 520 | |a The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a developmental disorder caused by de novo variants in PHF5A. | ||
| 650 | 4 | |a Craniofacial spliceosomopathies | |
| 650 | 4 | |a Exome | |
| 650 | 4 | |a Loss of function | |
| 650 | 4 | |a Nager syndrome | |
| 650 | 4 | |a Negative autoregulation | |
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| 787 | 0 | 8 | |i Errata |a Harms, Frederike Leonie |t Correction: De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias |d 2023 |w (DE-627)1879884429 |
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