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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
(Elsevier B. V., 2015)
Li-Fraumeni syndrome (LFS) is a hereditary disorder that predisposes patients to several types of cancer and is associated with TP53 germline mutations. Turner syndrome (TS) is one of the most common aneuploidies in women. ...
Generation of primordial germ cell-like cells from iPSCs derived from turner syndrome patients
(2021-11-01)
Turner syndrome (TS) is a genetic disorder in females with X Chromosome monosomy associated with highly variable clinical features, including premature primary gonadal failure leading to ovarian dysfunction and infertility. ...
Frequency of 677C -> T and 1298A -> C polymorphisms in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene in Turner syndrome individuals
(Sociedade Brasileira de Genética, 2006)
New Approach To Phenotypic Variability And Karyotype-phenotype Correlation In Turner Syndrome
(WALTER DE GRUYTER GMBHBERLIN, 2016)