作者
Frederike L. Harms,Alexander J.M. Dingemans,Maja Hempel,Rolph Pfundt,Tatjana Bierhals,Christian Casar,Christian Müller,Jikke-Mien F. Niermeijer,Jutta Fischer,Arne Jahn,Christoph Hübner,Silvia Majore,Emanuele Agolini,Antonio Novelli,Jasper J. van der Smagt,Robert F Ernst,Ellen van Binsbergen,Grazia M.S. Mancini,Marjon van Slegtenhorst,Tahsin Stefan Barakat,Emma Wakeling,Arveen Kamath,Lilian Downie,Lynn Pais,Susan White,Bert B.A. de Vries,Kerstin Kutsche
摘要
Correction to: Genetics in Medicine 2023; https://doi.org/10.1016/j.gim.2023.100927, published online 6 July 2023. In the article “De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias” (Genet Med 2023;25:100927), the following update was made. In the author listing, the author’s name “Tahshin S. Barakat” has been updated to “Tahsin Stefan Barakat.” Please see revised author listing shown above. The article has been corrected online can be accessed at https://doi.org/10.1016/j.gim.2023.100927. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadiasGenetics in MedicineVol. 25Issue 10PreviewThe SF3B splicing complex is composed of SF3B1-6 and PHF5A. We report a developmental disorder caused by de novo variants in PHF5A. Full-Text PDF