Compound heterozygosity for loss-of-functionGARSvariants results in a multisystem developmental syndrome that includes severe growth retardation-Reference-Cited by-同舟云学术

Compound heterozygosity for loss-of-functionGARSvariants results in a multisystem developmental syndrome that includes severe growth retardation

Published:2017-07-14 Issue:10 Volume:38 Page:1412-1420
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Oprescu Stephanie N.¹,Chepa-Lotrea Xenia²,Takase Ryuichi³,Golas Gretchen²,Markello Thomas C.²,Adams David R.²,Toro Camilo²,Gropman Andrea L.⁴,Hou Ya-Ming³,Malicdan May Christine V.²,Gahl William A.²,Tifft Cynthia J.²,Antonellis Anthony¹⁵^ORCID

Affiliation:

1. Department of Human Genetics; University of Michigan; Ann Arbor Michigan

2. NIH, Undiagnosed Diseases Program and Office of the Clinical Director; National Human Genome Research Institute, National Institutes of Health; Bethesda Maryland

3. Department of Biochemistry and Molecular Biochemistry; Thomas Jefferson University, Philadelphia; Pennsylvania

4. Division of Neurogenetics and Developmental Pediatrics; Children's National Medical Center; Washington District of Columbia

5. Department of Neurology; University of Michigan; Ann Arbor Michigan

Funder

National Institute of General Medical Sciences

National Human Genome Research Institute

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.23287/fullpdf

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4. Accurate whole human genome sequencing using reversible terminator chemistry;Bentley;Nature,2008

5. A positive selection for mutants lacking orotidine-5'-phosphate decarboxylase activity in yeast: 5-fluoro-orotic acid resistance;Boeke;Molecular Genetics and Genetics,1984

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