Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma-Reference-Cited by-同舟云学术

Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma

Published:2018-11-18 Issue:12 Volume:176 Page:2710-2719
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Blackburn Patrick R.¹²³^ORCID,Chacon-Camacho Oscar F.⁴,Ortiz-González Xilma R.⁵⁶,Reyes Mariana⁷,Lopez-Uriarte Graciela A.⁸,Zarei Shabnam³⁹,Bhoj Elizabeth J.¹⁰^ORCID,Perez-Solorzano Sofia⁴,Vaubel Rachael A.³⁹,Murphree Marine I.¹¹,Nava Jessica⁴,Cortes-Gonzalez Vianney⁷,Parisi Joseph E.³¹²,Villanueva-Mendoza Cristina⁷,Tirado-Torres Iris G.⁸,Li Dong¹⁰,Klee Eric W.¹²³¹¹,Pichurin Pavel N.¹¹,Zenteno Juan C.⁴¹³^ORCID

Affiliation:

1. Center for Individualized Medicine; Mayo Clinic; Rochester Minnesota

2. Department of Health Sciences Research; Rochester Minnesota

3. Department of Laboratory Medicine and Pathology; Mayo Clinic; Rochester Minnesota

4. Department of Genetics; Institute of Ophthalmology “Conde de Valenciana”; Mexico City Mexico

5. Department of Pediatrics, Division of Neurology; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

6. Department of Neurology, Perelman School of Medicine; University of Pennsylvania; Philadelphia Pennsylvania

7. Department of Genetics, Hospital "Dr. Luis Sánchez Bulnes"; Asociación para Evitar la Ceguera en México; Mexico City Mexico

8. Genetics Department, University Hospital "Dr. José Eleuterio González" and Medical School; Universidad Autónoma de Nuevo León; Monterrey Mexico

9. Department of Anatomic Pathology; Mayo Clinic; Rochester Minnesota

10. Center for Applied Genomics, Children's Hospital of Philadelphia; Philadelphia Pennsylvania

11. Department of Clinical Genomics; Mayo Clinic; Rochester Minnesota

12. Department of Neurology; Mayo Clinic; Rochester Minnesota

13. Department of Biochemistry, Faculty of Medicine; National Autonomous University of Mexico; Mexico City Mexico

Funder

Asociacion Para Evitar la Ceguera en Mexico

Roberts Collaborative

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.40644/fullpdf

Reference50 articles.

1. SOX2 haploinsufficiency is associated with slow progressing hypothalamo-pituitary tumours;Alatzoglou;Human Mutation,2011

2. Homozygous null mutation in ODZ3 causes microphthalmia in humans;Aldahmesh;Genetics in Medicine,2012

3. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions;Bakrania;The British Journal of Ophthalmology,2007

4. Microphthalmia/anophthalmia/coloboma spectrum;Bardakjian;GeneReviews,2004

5. The genetics of anophthalmia and microphthalmia;Bardakjian;Current Opinion in Ophthalmology,2011

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