Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies-Reference-Cited by-同舟云学术

Expanding the phenotype of Wiedemann‐Steiner syndrome: Craniovertebral junction anomalies

Published:2020-10-11 Issue:12 Volume:182 Page:2877-2886
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Giangiobbe Sara¹²,Caraffi Stefano Giuseppe¹^ORCID,Ivanovski Ivan¹,Maini Ilenia³,Pollazzon Marzia¹,Rosato Simonetta¹,Trimarchi Gabriele¹,Lauriello Anna¹,Marinelli Maria¹,Nicoli Davide⁴,Baldo Chiara⁵,Laurie Steven⁶,Flores‐Daboub Josue⁷^ORCID,Provenzano Aldesia⁸,Andreucci Elena⁸,Peluso Francesca⁸⁹,Rizzo Renata¹⁰,Stewart Helen¹¹^ORCID,Lachlan Katherine¹²¹³,Bayat Allan¹⁴^ORCID,Napoli Manuela¹⁵,Carboni Giorgia¹⁶,Baker Janice¹⁷,Mendel Alyssa¹⁸,Piatelli Gianluca¹⁹,Pantaleoni Chiara²⁰^ORCID,Mattina Teresa²¹,Prontera Paolo²²,Mendelsohn Nancy J.²³,Giglio Sabrina⁸,Zuffardi Orsetta²⁴,Garavelli Livia¹^ORCID

Affiliation:

1. Medical Genetics Unit, Mother and Child Health Department Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

2. Medical Genetics Unit San Raffaele Hospital Milan Italy

3. Unità Operativa di Psichiatria e Psicologia dell’Infanzia e dell’Adolescenza DAI‐SMDP, AUSL Parma Parma Italy

4. Molecular Biology Unit Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

5. UOC Laboratorio di Genetica Umana IRCCS Istituto Giannina Gaslini Genoa Italy

6. Clinical Genomics Centre Nacional d'Anàlisi Genòmica, Centre de Regulació Genòmica Barcelona Spain

7. Division of Pediatric Clinical Genetics University of Utah School of Medicine Salt Lake City UT USA

8. Medical Genetics Unit Meyer Children's University Hospital Florence Italy

9. Neurobiology and Molecular Medicine IRCCS Stella Maris Pisa Italy

10. Child Neuropsychiatry, Department of Clinical and Experimental Medicine University of Catania Catania Italy

11. Oxford Centre for Genomic Medicine Oxford University Hospitals NHS Foundation Trust Oxford UK

12. Wessex Clinical Genetics Service Southampton University Hospitals NHS Foundation Trust, Princess Anne Hospital Southampton UK

13. Human Genetics and Genomic Medicine University of Southampton Southampton UK

14. Department of Genetics and Personalized Medicine Danish Epilepsy Centre Dianalund Denmark

15. Neuroradiology Unit Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

16. Radiology Unit Azienda USL‐IRCCS di Reggio Emilia Reggio Emilia Italy

17. Children's Hospitals and Clinics of Minnesota Minneapolis MN USA

18. Coordination of Rare Diseases at Sanford (CoRDS) Sanford Research Sioux Falls SD USA

19. UOC Neurochirurgia IRCCS Istituto Giannina Gaslini Genoa Italy

20. Developmental Neurology Department Fondazione IRCCS Istituto Neurologico "C. Besta" Milan Italy

21. Department of Biomedical and Biotechnological Sciences University of Catania Catania Italy

22. Medical Genetics Unit "Santa Maria della Misericordia" Hospital Perugia Italy

23. Complex Health Solutions UnitedHealth Group Minneapolis MN USA

24. Department of Molecular Medicine University of Pavia Pavia Italy

Funder

Medical Research Council Canada

Cancer Research UK

Wellcome Trust

National Institute for Health Research

Department of Health, Australian Government

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61859

Reference23 articles.

1. Wiedemann-Steiner syndrome: Novel pathogenic variant and review of literature

2. Rubinstein–Taybi syndrome: New neuroradiological and neuropsychiatric insights from a multidisciplinary approach;Ajmone P. F.;American Journal of Medical Genetics. Part B,2018

3. Wiedemann-Steiner syndrome as a major cause of syndromic intellectual disability: A study of 33 French cases

4. Kabuki syndrome: clinical and molecular characteristics

5. Symptomatic Chiari I malformation in Kabuki syndrome

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