Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

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Date: July 11, 2023
Authors:
Aditi Shah Parikh, Alan Donaldson, Alberto Gomez, Alina T Midro, Allan Bayat, Amélie Piton, Anna C. E. Hurst, Ariel Brautbar, Arie van Haeringen, Beata Stasiewicz-Jarocka, Boris Keren, Carole Brewer, Corinna Stoltenburg, Cyril Mignot, David B Beck, Deepali N. Shinde, Devon Haynes, Diana Moskal-Jasinska, Dusit Adstamongkonkul, Elena Gardella, Eugeniusz Tarasów, Felix Boschann, Ignacio Briceño, Inger-Lise Mero, Ingrid Cristian, Irma van de Beek, Johanna C. Acosta Guio, Julian Martinez, Karen W Gripp, Kevin E Glinton, Kevin M. Bowling, Kristine Lossius, Linda Zuurbier, Lindsay B Henderson, Louise Amlie-Wolf, Margherita Furlan, Morten Buch Engelund, Oliver Puk, Oskar Schnappauf, Paul Vos, Pawel Stankiewicz, Pernille M Torring, Phillis Lakeman, Rebecca Signer, Rikke Steensbjerre Møller, Saskia Koene, Yaping Yang, Yline Capri
Journal: American journal of medical genetics. Part A
Journal Volume: 185