Somatic mosaicism of an intragenicFANCBduplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype-Reference-Cited by-同舟云学术

Somatic mosaicism of an intragenicFANCBduplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype

Published:2017-11-30 Issue:1 Volume:6 Page:77-91
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Asur Rajalakshmi S.¹^ORCID,Kimble Danielle C.¹,Lach Francis P.²,Jung Moonjung²,Donovan Frank X.¹,Kamat Aparna¹,Noonan Raymond J.²,Thomas James W.³,Park Morgan³,Chines Peter⁴,Vlachos Adrianna⁵⁶,Auerbach Arleen D.⁷,Smogorzewska Agata²,Chandrasekharappa Settara C.¹

Affiliation:

1. Cancer Genetics and Comparative Genomics Branch; National Human Genome Research Institute; NIH; Bethesda MD USA

2. Laboratory of Genome Maintenance; The Rockefeller University; New York NY USA

3. NIH Intramural Sequencing Center; National Human Genome Research Institute; NIH; Rockville MD USA

4. Medical Genomics and Metabolic Genetics Branch; National Human Genome Research Institute; NIH; Bethesda MD USA

5. Hematology/Oncology and Stem Cell Transplantation; Cohen Children's Medical Center; New Hyde Park NY USA

6. The Feinstein Institute for Medical Research of Northwell Health; Manhasset NY USA

7. Human Genetics and Hematology Program; The Rockefeller University; New York NY USA

Funder

Dr. Agata Smogorzewska

National Heart Lung and Blood Institute

National Center for Advancing Translational Sciences

National Institutes of Health

Howard Hughes Faculty Scholar Grant. Dr. Settara Chandrasekharappa

National Human Genome Research Institute

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mgg3.350/fullpdf

Reference31 articles.

1. VACTERL-H Association and Fanconi Anemia;Alter;Molecular Syndromology,2013

2. Fanconi anemia and its diagnosis;Auerbach;Mutation Research,2009

3. Diagnosis of Fanconi anemia by diepoxybutane analysis;Auerbach;Current Protocols in Human Genetics,2015

4. A genomic view of mosaicism and human disease;Biesecker;Nature Reviews Genetics,2013

5. Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia;Chandrasekharappa;Blood,2013

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