De Novo PHF5A Variants Cause Craniofacial Abnormalities and Developmental Delay
Frederike Harms,Alexander Dingemans,Maja Hempel,Rolph Pfundt,Tatjana Bierhals,Christian Casar, Christian Mueller,Jikke-Mien Niermeijer,Jan Fischer,Arne Jahn, Christoph Huebner,Silvia Majore,Emanuele Agolini,Antonio Novelli,Jasper van der Smagt,Robert Ernst,Ellen van Binsbergen,Arveen Kamath,Lilian Downie,Lynn Pais,Sue White,Bert B. A. de Vries,Kerstin Kutsche EUROPEAN JOURNAL OF HUMAN GENETICS（2024）
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