Genotype and phenotype in 12 additional individuals with SATB2 -associated syndrome-Reference-Cited by-同舟云学术

Genotype and phenotype in 12 additional individuals with SATB2 -associated syndrome

Published:2017-03-07 Issue:4 Volume:92 Page:423-429
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Zarate Y.A.¹^ORCID,Kalsner L.²,Basinger A.³,Jones J.R.⁴,Li C.⁵^ORCID,Szybowska M.⁵,Xu Z.L.⁶,Vergano S.⁷,Caffrey A.R.⁸,Gonzalez C.V.⁹,Dubbs H.¹⁰,Zackai E.¹⁰,Millan F.¹¹,Telegrafi A.¹¹,Baskin B.¹¹,Person R.¹¹,Fish J.L.¹²,Everman D.B.⁴

Affiliation:

1. Section of Genetics and Metabolism; University of Arkansas for Medical Sciences; Little Rock Arkansas

2. Department of Pediatrics; Connecticut Children's Medical Center; Hartford Connecticut

3. Department of Pediatrics; Cook Children's Physician Network; Fort Worth Texas

4. Department of Genetics; Greenwood Genetic Center; Greenwood South Carolina

5. Clinical Genetics program; McMaster University Medical Center; Hamilton Ontario Canada

6. Faculty of Health Sciences; McMaster University; Hamilton Ontario Canada

7. Division of Medical Genetics and Metabolism; Children's Hospital of The King's Daughters; Norfolk Virginia

8. Health Outcomes, Collage of pharmacy; University of Rhode Island; Kingston Rhode Island

9. Biostatistics Program, Department of Pediatrics; University of Arkansas for Medical Sciences; Little Rock Arkansas

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

11. Department of Molecular Genetics; GeneDx; Gaithersburg Maryland

12. Department of Biological Sciences; University of Massachusetts Lowell; Lowell Massachusetts

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.12982/fullpdf

Reference17 articles.

1. SATB2-associated syndrome: mechanisms, phenotype, and practical recommendations;Zarate;Am J Med Genet A,2017

2. Further supporting evidence for the SATB2-associated syndrome found through whole exome sequencing;Zarate;Am J Med Genet A,2015

3. Further delineation of the SATB2 phenotype;Docker;Eur J Hum Genet,2014

4. Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene;Leoyklang;Hum Genet,2013

5. Increased bone turnover, osteoporosis, progressive tibial bowing, fractures, and scoliosis in a patient with a final-exon SATB2 frameshift mutation;Boone;Am J Med Genet A,2016

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