An infant withMLH3variants,FOXG1-duplication and multiple, benign cranial and spinal tumors: A clinical exome sequencing study

Author:

Kansal Rina1,Li Xinmin1,Shen Joseph2,Samuel David3,Laningham Fred4,Lee Hane1,Panigrahi Gagan B.5,Shuen Andrew56,Kantarci Sibel1,Dorrani Naghmeh7,Reiss Jean1,Shintaku Peter1,Deignan Joshua L.1,Strom Samuel P.1,Pearson Christopher E.56,Vilain Eric78,Grody Wayne W.178

Affiliation:

1. Pathology and Laboratory Medicine; University of California at Los Angeles, David Geffen School of Medicine; Los Angeles CA 90095

2. Medical Genetics and Metabolism; Valley Children's Hospital; Madera CA 93636

3. Hematology/Oncology, Valley Children's Hospital; Madera CA 93636

4. Department of Radiology; Valley Children's Hospital; Madera CA 93636

5. Program of Genetics & Genome Biology; The Hospital for Sick Children, Peter Gilgan Center for Research and Learning; Toronto Ontario MSG 0A4 Canada

6. Program of Molecular Genetics, University of Toronto; Toronto, Ontario M5S 1A1 Canada

7. Pediatrics, University of California at Los Angeles, David Geffen School of Medicine; Los Angeles CA 90095

8. Human Genetics, University of California at Los Angeles, David Geffen School of Medicine; Los Angeles CA 90095

Publisher

Wiley

Subject

Cancer Research,Genetics

Reference56 articles.

1. Infrequent frameshift mutations in the simple repeat sequences of hMLH3 in hereditary nonpolyposis colorectal cancers;Akiyama;Jpn J Clin Oncol,2001

2. Questionable pathogenicity of FOXG1 duplication;Amor;Eur J Hum Genet,2012

3. Genetic and clinical determinants of constitutional MMR deficiency syndrome: Report from the constitutional MMR deficiency consortium;Bakry;Eur J Cancer,2014

4. 14q12 duplication including FOXG1: Is there a common age-dependent epileptic phenotype?;Bertossi;Brain Dev,2014

5. A National Cancer Institute workshop on microsatellite instability for cancer detection and familial predisposition: development of international criteria for the determination of microsatellite instability in colorectal cancer;Boland;Cancer Res,1998

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