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

Author:

Glinton Kevin E.1ORCID,Hurst Anna C. E.2ORCID,Bowling Kevin M.3,Cristian Ingrid4,Haynes Devon4ORCID,Adstamongkonkul Dusit56,Schnappauf Oskar7,Beck David B.7,Brewer Carole8,Parikh Aditi Shah9,Shinde Deepali N.10,Donaldson Alan11,Brautbar Ariel12,Koene Saskia13ORCID,Haeringen Arie13,Piton Amélie14,Capri Yline15,Furlan Margherita16,Gardella Elena1617,Møller Rikke Steensbjerre1617,Beek Irma18,Zuurbier Linda18,Lakeman Phillis18,Bayat Allan161719ORCID,Martinez Julian20ORCID,Signer Rebecca20,Torring Pernille M.21,Engelund Morten Buch21,Gripp Karen W.22,Amlie‐Wolf Louise22ORCID,Henderson Lindsay B.23,Midro Alina T.24ORCID,Tarasów Eugeniusz25,Stasiewicz‐Jarocka Beata24,Moskal‐Jasinska Diana26,Vos Paul27,Boschann Felix28ORCID,Stoltenburg Corinna29,Puk Oliver30,Mero Inger‐Lise31,Lossius Kristine32,Mignot Cyril33,Keren Boris34,Acosta Guio Johanna C.35,Briceño Ignacio36,Gomez Alberto36,Yang Yaping137,Stankiewicz Pawel1ORCID

Affiliation:

1. Department of Molecular & Human Genetics Baylor College of Medicine, One Baylor Plaza Houston Texas USA

2. Department of Genetics University of Alabama at Birmingham Birmingham Alabama USA

3. HudsonAlpha Institute for Biotechnology Huntsville Alabama USA

4. Division of Genetics Arnold Palmer Hospital for Children – Orlando Health Orlando Florida USA

5. CoxHealth CoxHealth Pediatric Specialties Springfield Missouri USA

6. University of Missouri School of Medicine Springfield Clinical Campus Springfield Missouri USA

7. National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA

8. Peninsula Clinical Genetics Service Royal Devon and Exeter NHS Foundation Trust Exeter United Kingdom

9. Center for Human Genetics University Hospitals Cleveland Medical Center and Case Western Reserve University Cleveland Ohio USA

10. Department of Clinical Genomics Ambry Genetics Aliso Viejo California USA

11. Clinical Genetics University Hospitals Bristol NHS Foundation Trust Bristol United Kingdom

12. Medical Genetics Department Cook Children's Hospital Fort Worth Texas USA

13. Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands

14. Unité de Génétique Moléculaire Strasbourg University Hospital 1 place de l'Hôpital Strasbourg Cedex France

15. Service de Génétique Clinique CHU Robert Debré Paris Cedex France

16. Danish Epilepsy Centre Dianalund Denmark

17. University of Southern Denmark Odense Denmark

18. Amsterdam UMC University of Amsterdam, Department of Clinical Genetics Amsterdam the Netherlands

19. Department of Pediatrics University Hospital of Hvidovre Copenhagen Denmark

20. Departments of Human Genetics, Pediatrics and Psychiatry David Geffen School of Medicine at UCLA California Los Angeles USA

21. Department of Clinical Genetics Odense University Hospital Odense Denmark

22. Division of Medical Genetics Nemours/Alfred I. duPont Hospital for Children Wilmington Delaware USA

23. GeneDx Gaithersburg Maryland USA

24. Department of Clinical Genetics Medical University, Białystok, 15‐089 Białystok Poland

25. Department of Radiology Medical University Bialystok Poland

26. Department of Clinical Phonoaudiology and Speech Therapy Medical University, Białystok Białystok Poland

27. Department of Pediatrics Haga Teaching Hospital, Juliana Children's Hospital The Hague The Netherlands

28. Institut für Medizinische Genetik und Humangenetik Charité ‐ Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt Universität zu Berlin, and Berlin Institute of Health Berlin Germany

29. Department of Neuropaediatrics Charité – Berlin University of Medicine Berlin Germany

30. Praxis für Humangenetik Tuebingen Department of Genetic Diagnostics Tuebingen Germany

31. Department of Medical Genetics Oslo University Hospital Norway

32. Department of Pediatric and Adolescent Medicine Akershus University Hospital Norway

33. APHP‐Sorbonne Université Département de Génétique, Hôpital Trousseau et Groupe Hospitalier Pitié‐Salpêtrière Paris France

34. Department of Genetics APHP, Pitié‐Salpêtrière University Hospital Paris France

35. Especialista en Genética Médica Instituto de Ortopedia Infantil Roosevelt Bogotá Cundinamarca Colombia

36. Instituto de Genética Humana Facultad de Medicina, Pontificia Universidad Javeriana Bogotá DC Colombia

37. AiLife Diagnostics Country Place Pkwy Suite 100 Pearland Texas USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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