Phenotypic expansion in DDX3X - a common cause of intellectual disability in females

Author:

Wang Xia12ORCID,Posey Jennifer E.1,Rosenfeld Jill A.1ORCID,Bacino Carlos A.13,Scaglia Fernando13,Immken LaDonna4,Harris Jill M.4,Hickey Scott E.56,Mosher Theresa M.6,Slavotinek Anne7,Zhang Jing2,Beuten Joke2,Leduc Magalie S.12,He Weimin2,Vetrini Francesco2,Walkiewicz Magdalena A.12,Bi Weimin12,Xiao Rui12,Liu Pengfei12,Shao Yunru13,Gezdirici Alper8,Gulec Elif Y.8,Jiang Yunyun1,Darilek Sandra A.1,Hansen Adam W.1,Khayat Michael M.1,Pehlivan Davut19,Piard Juliette10,Muzny Donna M.111,Hanchard Neil1,Belmont John W.1,Van Maldergem Lionel10,Gibbs Richard A.111,Eldomery Mohammad K.1,Akdemir Zeynep C.1,Adesina Adekunle M.312,Chen Shan1,Lee Yi-Chien1,Lee Brendan1,Lupski James R.1311,Eng Christine M.12,Xia Fan12,Yang Yaping12,Graham Brett H.1313ORCID,Moretti Paolo11415,

Affiliation:

1. Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Baylor Genetics; Houston Texas

3. Texas Children's Hospital; Houston Texas

4. Specially for Children; Austin Texas

5. Clinical Pediatrics; The Ohio State University; Columbus Ohio

6. Division of Molecular & Human Genetics; Nationwide Children's Hospital; Columbus Ohio

7. Department of Pediatrics; Division of Genetics; University of California; San Francisco California

8. Department of Genetics; Kanuni Sultan Suleyman Training and Research Hospital; Instanbul Turkey

9. Section of Neurology; Department of Pediatrics; Baylor College of Medicine; Houston Texas

10. Centre de Génétique Humaine; Université de Franche-Comté; Besançon France

11. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

12. Pathology; Baylor College of Medicine; Houston Texas

13. Medical and Molecular Genetics; Indiana University School of Medicine; Indianapolis Indiana

14. Neurology; Baylor College of Medicine and Michael E. DeBakey VA Medical Center; Houston Texas

15. Neurology; University of Utah and George E. Wahlen VA Medical Center; Salt Lake City Utah

Funder

National Human Genome Research Institute

National Institutes of Health

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

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