A recurrent germline mutation in thePIGAgene causes Simpson-Golabi-Behmel syndrome type 2-Reference-Cited by-同舟云学术

A recurrent germline mutation in thePIGAgene causes Simpson-Golabi-Behmel syndrome type 2

Published:2015-11-06 Issue:2 Volume:170 Page:392-402
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Fauth Christine¹,Steindl Katharina²,Toutain Annick³,Farrell Sandra⁴,Witsch-Baumgartner Martina¹,Karall Daniela⁵,Joset Pascal²,Böhm Sebastian⁶,Baumer Alessandra²,Maier Oliver⁶,Zschocke Johannes¹,Weksberg Rosanna⁷⁸⁹,Marshall Christian R.¹⁰¹¹,Rauch Anita²

Affiliation:

1. Division of Human Genetics, Department of Medical Genetics, Molecular and Clinical Pharmacology; Medical University of Innsbruck; Innsbruck Austria

2. Institute of Medical Genetics; University of Zürich; Schlieren-Zürich Switzerland

3. Department of Genetics; Tours University Hospital; Tours France

4. Department of Laboratory Medicine and Genetics, Trillium Health Partners; Credit Valley Hospital; Mississauga Ontario Canada

5. Clinic for Pediatrics I, Inherited Metabolic Disorders; Medical University of Innsbruck; Innsbruck Austria

6. Children's Hospital of Eastern Switzerland; St. Gallen Switzerland

7. Division of Clinical and Metabolic Genetics; The Hospital for Sick Children; Toronto Ontario Canada

8. Genetics and Genome Biology Program; The Hospital for Sick Children; Toronto Ontario Canada

9. Institute of Medical Science and Department of Pediatrics; University of Toronto; Toronto Ontario Canada

10. Department of Pediatric Laboratory Medicine; The Hospital for Sick Children; Toronto Ontario Canada

11. The Centre for Applied Genomics; Genetics and Genome Biology, The Hospital for Sick Children; Toronto Ontario Canada

Funder

radiz-Rare Disease Initiative Zürich

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37452/fullpdf

Reference37 articles.

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2. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality;Belet;Hum Mutat,2014

3. Paroxysmal nocturnal haemoglobinuria (PNH) is caused by somatic mutations in the PIG-A gene;Bessler;EMBO J,1994

4. Invited editorial comment-The human phenotype of germline PIGA mutations;Biesecker;Am J Med Genet A,2014

5. Mapping of a new SGBS locus to chromosome Xp22 in a family with a severe form of Simpson-Golabi-Behmel syndrome;Brzustowicz;Am J Hum Genet,1999

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