Two uniqueTUBB3mutations cause both CFEOM3 and malformations of cortical development-Reference-Cited by-同舟云学术

Two uniqueTUBB3mutations cause both CFEOM3 and malformations of cortical development

Published:2015-12-06 Issue:2 Volume:170 Page:297-305
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Whitman Mary C.¹²³,Andrews Caroline³⁴⁵⁶,Chan Wai-Man³⁴⁵⁶⁷,Tischfield Max A.³⁴⁵,Stasheff Steven F.⁸,Brancati Francesco⁹,Ortiz-Gonzalez Xilma¹⁰,Nuovo Sara¹¹,Garaci Francesco¹²,MacKinnon Sarah E.¹,Hunter David G.¹²,Grant P. Ellen¹³,Engle Elizabeth C.¹²³⁴¹⁴

Affiliation:

1. Department of Ophthalmology; Boston Children's Hospital; Boston Massachusetts

2. Department of Ophthalmology; Harvard Medical School; Boston Massachusetts

3. FM Kirby Neurobiology Center; Boston Children's Hospital; Boston Massachusetts

4. Department of Neurology; Boston Children's Hospital; Boston Massachusetts

5. Department of Neurology; Harvard Medical School; Boston Massachusetts

6. Howard Hughes Medical Institute; Chevy Chase Maryland

7. Program in Genomics; Boston Children's Hospital; Boston Massachusetts

8. Departments of Pediatrics (Neurology), Ophthalmology and Visual Sciences, Neurology and Biomedical Engineering; University of Iowa; Iowa City Iowa

9. Department of Medical, Oral and Biotechnological Sciences; Gabriele d'Annunzio University; Chieti Italy

10. Department of Neurology; Children's Hospital of Philadelphia; Philadelphia Pennsylvania

11. Department of Biomedicine and Prevention; Tor Vergata University; Rome Italy

12. Department of Diagnostic Imaging, Molecular Imaging, Interventional Radiology and Radiotherapy; Tor Vergata University; Rome Italy

13. Department of Radiology; Boston Children's Hospital; Harvard Medical School Boston Massachusetts

14. Department of Neurology; Harvard Medical School; Boston Massachusetts. Howard Hughes Medical Institute; Chevy Chase Maryland. Program in Genomics; Boston Children's Hospital; Boston Massachusetts. Broad Institute of MIT and Harvard; Cambridge Massachusetts. The Manton Center for Orphan Disease Research; Boston Children's Hospital; Boston Massachusetts. Department of Medicine (Genetics); Boston Children's Hospital; Boston Massachusetts

Funder

National Eye Institute of the National Institutes of Health

Boston Children's Hospital Intellectual and Developmental Disabilities Research Center

Harvard-Vision Clinical Scientist Development Program Research

Knights Templar Eye Foundation

Children's Hospital Ophthalmology Foundation

National Institute of Neurological Disorders and Stroke

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link