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.

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Bibliographic Details
Main Authors:	Harms, Frederike Leonie (Author) , Dingemans, Alexander J. M. (Author) , Hempel, Maja (Author) , Pfundt, Rolph (Author) , Bierhals, Tatjana (Author) , Casar, Christian (Author) , Müller, Christian (Author) , Niermeijer, Jikke-Mien F. (Author) , Fischer, Jan (Author) , Jahn, Arne (Author) , Hübner, Christoph (Author) , Majore, Silvia (Author) , Agolini, Emanuele (Author) , Novelli, Antonio (Author) , van der Smagt, Jasper (Author) , Ernst, Robert (Author) , van Binsbergen, Ellen (Author) , Mancini, Grazia M. S. (Author) , van Slegtenhorst, Marjon (Author) , Barakat, Tahsin Stefan (Author) , Wakeling, Emma L. (Author) , Kamath, Arveen (Author) , Downie, Lilian (Author) , Pais, Lynn (Author) , White, Susan M. (Author) , de Vries, Bert B. A. (Author) , Kutsche, Kerstin (Author)
Format:	Article (Journal)
Language:	English
Published:	6 July 2023
In:	Genetics in medicine Year: 2023, Volume: 25, Issue: 10, Pages: 1-19
ISSN:	1530-0366
DOI:	10.1016/j.gim.2023.100927
Online Access:	Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.gim.2023.100927 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360023009401
Author Notes:	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

Description
Summary:	The SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a developmental disorder caused by de novo variants in PHF5A.
Item Description:	Gesehen am 21.11.2023
Physical Description:	Online Resource
ISSN:	1530-0366
DOI:	10.1016/j.gim.2023.100927