De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias (vol 25, 100927, 2023)
Frederike L. Harms, Alexander J. M. Dingemans,Maja Hempel,Rolph Pfundt,Tatjana Bierhals,Christian Casar, Christian Mueller,Jikke-Mien F. Niermeijer,Jan Fischer,Arne Jahn, Christoph Huebner,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 GENETICS IN MEDICINE（2023）
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