Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape-Reference-Cited by-同舟云学术

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Cockayne syndrome, MEN1, and genomic variants: Exome sequencing is changing our view of the genetic landscape

Published:2021-06-08 Issue:4 Volume:38 Page:913-918
ISSN:0736-8046
Container-title:Pediatric Dermatology
language:en
Short-container-title:Pediatr Dermatol

Author:

Oska Sandra R.¹^ORCID,Tamura Deborah¹^ORCID,Blau Jenny E.²^ORCID,Khan Sikandar G.¹^ORCID,Kraemer Kenneth H.¹^ORCID,DiGiovanna John J.¹^ORCID

Affiliation:

1. Laboratory of Cancer Biology and Genetics Center for Cancer Research National Cancer Institute, National Institutes of Health Bethesda MD USA

2. Metabolic Diseases Branch National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health Bethesda MD USA

Funder

National Cancer Institute

National Human Genome Research Institute

Publisher

Wiley

Subject

Dermatology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/pde.14655

Reference23 articles.

1. Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation

2. Fumarate hydratase FH c.1431_1433dupAAA (p.Lys477dup) variant is not associated with cancer including renal cell carcinoma

3. Hereditary leiomyomatosis and renal cell cancer (HLRCC): renal cancer risk, surveillance and treatment

4. Shining a Light on Xeroderma Pigmentosum

5. Incidence of DNA repair deficiency disorders in western Europe: Xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy

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