Phenotypic and mutational spectrum of <i>ROR2</i> ‐related Robinow syndrome-Reference-Cited by-同舟云学术

Phenotypic and mutational spectrum of ROR2 ‐related Robinow syndrome

Published:2022-05-10 Issue:7 Volume:43 Page:900-918
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lima Ariadne R.¹,Ferreira Barbara M.²,Zhang Chaofan³,Jolly Angad³⁴,Du Haowei³^ORCID,White Janson J.⁵,Dawood Moez³⁴⁶,Lins Tulio C.⁷,Chiabai Marcela A.⁷,van Beusekom Ellen⁸,Cordoba Mara S.⁹¹⁰,Caldas Rosa Erica C.C.¹,Kayserili Hulya¹¹,Kimonis Virginia¹²,Wu Erica¹³,Mellado Cecilia¹⁴,Aggarwal Vineet¹⁵,Richieri‐Costa Antonio¹⁶,Brunoni Décio¹⁷,Canó Talyta M.²¹⁸,Jorge Alexander A. L.¹⁹,Kim Chong A.²⁰,Honjo Rachel²⁰,Bertola Débora R.²⁰²¹,Dandalo‐Girardi Raissa M.²²,Bayram Yavuz²³²⁴,Gezdirici Alper²⁵,Yilmaz‐Gulec Elif²⁶,Gumus Evren²⁷,Yilmaz Gülay C.²⁷,Okamoto Nobuhiko²⁸^ORCID,Ohashi Hirofumi²⁹,Coban–Akdemir Zeynep³³⁰,Mitani Tadahiro³,Jhangiani Shalini N.⁶,Muzny Donna M.⁶,Regattieri Neysa A.P.⁹,Pogue Robert⁷^ORCID,Pereira Rinaldo W.⁷,Otto Paulo A.²¹,Gibbs Richard A.⁶,Ali Bassam R.³¹,van Bokhoven Hans⁸,Brunner Han G.⁸,Sutton V. Reid³³²,Lupski James R.³⁶³²³³^ORCID,Vianna‐Morgante Angela M.²¹,Carvalho Claudia M. B.³³⁴,Mazzeu Juliana F.¹²⁹³⁵^ORCID

Affiliation:

1. Programa de Pós‐Graduação em Ciências da Saúde Universidade de Brasília Brasília DF Brasil

2. Programa de Pós‐Graduação em Ciências Médicas Universidade de Brasília Brasília DF Brasil

3. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA

4. Medical Scientist Training Program Baylor College of Medicine Houston Texas USA

5. Department of Pediatrics University of Washington Seattle Washington USA

6. Human Genome Sequencing Center, Baylor College of Medicine Houston Texas USA

7. Programa de Pós‐graduação em Ciências Genômicas e Biotecnologia, Universidade Católica de Brasília Brasília DF Brasil

8. Radboud University Nijmegen Medical Centre Nijmegen The Netherlands

9. Faculdade de Medicina Universidade de Brasília Brasília DF Brasil

10. Hospital Universitário de Brasília Brasília Brasil

11. Medical Genetics Department, School of Medicine (KUSoM) Koç University Istanbul Turkey

12. Division of Genetics and Genomic Medicine, Department of Pediatrics University of California‐Irvine Irvine California USA

13. Obstetrics and Gynecology Stanford University Stanford California USA

14. Unidad de Genética, División de Pediatría Pontificia Universidad Católica de Chile Santiago Chile

15. Department of Orthopedics Indira Gandhi Medical College Snowdon India

16. Hospital de Reabilitação de Anomalias Craniofaciais Bauru Brasil

17. Universidade Presbiteriana Mackenzie–UPM São Paulo Brasil

18. Núcleo de Genética–SESDF Brasília DF Brasil

19. Laboratório de Endocrinologia Celular e Molecular LIM25, Disciplina de Endocrinologia da Faculdade de Medicina da Universidade de São Paulo Unidade de Endocrinologia Genética São Paulo Brasil

20. Unidade de Genética, Instituto da Criança‐Hospital das Clinicas HCFMUSP, Faculdade de Medicina Universidade de São Paulo São Paulo Brasil

21. Departamento de Genética e Biologia Evolutiva, Instituto de Biociências Universidade de São Paulo São Paulo Brasil

22. Programa de Mestrado Profissional em Aconselhamento Genético e Genômica Humana, Instituto de Biociências Universidade de São Paulo São Paulo Brasil

23. Department of Pathology and Laboratory Medicine, Division of Genomic Diagnostics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA

24. Perelman School of Medicine University of Pennsylvania Philadelphia Pennsylvania USA

25. Department of Medical Genetics Basaksehir Cam and Sakura City Hospital Istanbul Turkey

26. School of Medicine Istanbul Medeniyet University Istanbul Turkey

27. Medical Genetics Department Medicine Faculty Mugla Sitki Kocman University Mugla Turkey

28. Department of Medical Genetics Osaka Women's and Children's Hospital Osaka Japan

29. Saitama Children's Medical Center, Division of Medical Genetics Saitama Japan

30. Department of Epidemiology, Human Genetics, and Environmental Sciences, Human Genetics Center School of Public Health, UT Health Houston Texas USA

31. Department of Genetics and Genomics, College of Medicine and Health Sciences United Arab Emirates University Al‐Ain United Arab Emirates

32. Texas Children's Hospital Houston Texas USA

33. Department of Pediatrics Baylor College of Medicine Houston Texas USA

34. Pacific Northwest Research Institute Seattle Washington USA

35. Robinow Syndrome Foundation Anoka Minnesota USA

Funder

National Institute of Neurological Disorders and Stroke

National Institute of General Medical Sciences

Eunice Kennedy Shriver National Institute of Child Health and Human Development

National Human Genome Research Institute

Publisher

Hindawi Limited