Genomic profile of a Li-Fraumeni-like syndrome patient with a 45,X/46,XX karyotype, presenting neither mutations in TP53 nor clinical stigmata of Turner syndrome

Author:

Basso Tatiane R.,Villacis Rolando A.R.,Canto Luisa M.,Alves Vinicius M.F.,Lapa Rainer M.L.,Nóbrega Amanda F.,Achatz Maria I.,Rogatto Silvia R.

Funder

National Institute of Science and Technology in Oncogenomics

INCITO - São Paulo Research Foundation, FAPESP

Conselho Nacional de Desenvolvimento Científico e Tecnológico, CNPq

Publisher

Elsevier BV

Subject

Cancer Research,Genetics,Molecular Biology

Reference26 articles.

1. Li-fraumeni syndrome;Malkin;Genes Cancer,2011

2. French LFS working group. Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families;Bougeard;J Med Genet,2008

3. P53 germline mutations in childhood cancers and cancer risk for carrier individuals;Chompret;Br J Cancer,2000

4. Multiple primary cancers in families with Li-Fraumeni syndrome;Hisada;J Natl Cancer Inst,1998

5. Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome;Stochholm;J Clin Endocrinol Metab,2006

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