Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Authors: Kevin E Glinton; Anna C. E. Hurst; Kevin M. Bowling; Ingrid Cristian; Devon Haynes; Dusit Adstamongkonkul; Oskar Schnappauf; David B Beck; Carole Brewer; Aditi Shah Parikh; Deepali N Shinde; Alan Donaldson; Ariel Brautbar; Saskia Koene; Arie van Haeringen; Amélie Piton; Yline Capri; Margherita Furlan; Elena Gardella; Rikke Steensbjerre Møller; Irma van de Beek; Linda Zuurbier; Phillis Lakeman; Allan Bayat; Julian Martinez; Rebecca Signer; Pernille M Torring; Morten Buch Engelund; Karen W Gripp; Louise Amlie-Wolf; Lindsay B Henderson; Alina T Midro; Eugeniusz Tarasów; Beata Stasiewicz-Jarocka; Diana Moskal-Jasinska; Paul Vos; Felix Boschann; Corinna Stoltenburg; Oliver Puk; Inger-Lise Mero; Kristine Lossius; Cyril Mignot; Boris Keren; Johanna C. Acosta Guio; Ignacio Briceño; Alberto Gomez; Yaping Yang; Pawel Stankiewicz
Collaborators: AiLife; Akershus University Hospital; Alfred I. duPont Hospital for Children; APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics; Arnold Palmer Hospital; Baylor College of Medicine; Charité - Universitätsmedizin Berlin; CHU Robert Debré; Cook Children's Hospital; CoxHealth; David Geffen School of Medicine, UCLA; Département de Génétique Médicale, CHU de Hautepierre, Strasbourg, France; GeneDx; Hôpital Trousseau et Groupe Hospitalier Pitié-Salpêtrière; HudsonAlpha Institute for Biotechnology; Humboldt Universität zu Berlin; Instituto de Ortopedia Infantil Roosevelt; Juliana Children's Hospital; Leiden University Medical Center; Medical University Białystok; National Human Genome Research Institute; North Bristol NHS Trust; Odense University Hospital; Oslo University Hospital; Pontificia Universidad Javeriana; Praxis für Humangenetik Tuebingen; Royal Devon and Exeter NHS Foundation Trust; The Danish Epilepsy Centre; University Hospital of Hvidovre; University Hospitals Cleveland Medical Center; University of Alabama at Birmingham; University of Amsterdam; University of Missouri Medical Center; University of Southern Denmark
Journal: American journal of medical genetics. Part A