Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genesTSR2andRPS28-Reference-Cited by-同舟云学术

Diamond-Blackfan anemia with mandibulofacial dystostosis is heterogeneous, including the novel DBA genesTSR2andRPS28

Published:2014-06-18 Issue:9 Volume:164 Page:2240-2249
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Gripp Karen W.¹^ORCID,Curry Cynthia²,Olney Ann Haskins³,Sandoval Claudio⁴,Fisher Jamie⁵,Chong Jessica Xiao-Ling⁶,Pilchman Lisa⁷,Sahraoui Rebecca⁷,Stabley Deborah L.⁷,Sol-Church Katia⁷,

Affiliation:

1. Division of Medical Genetics; A. I. duPont Hospital for Children; Wilmington Delaware

2. University of California; San Francisco California

3. Munroe-Meyer Institute for Genetics and Rehabilitation; University of Nebraska Medical Center; Omaha Nebraska

4. Department of Pediatrics; New York Medical College; Valhalla New York

5. Genetic Medicine Central California; Fresno California

6. University of Washington; Seattle Washington

7. Department of Biomedical Research; Nemours' Children's Clinic; Wilmington Delaware

Funder

Nemours Foundation

NIH-NIGMS

NIH-National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36633/fullpdf

Reference24 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome;Bernier;Am J Hum Genet,2012

4. Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia;Bolze;Science,2013

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