Article
Exploring FGFR3 Mutations in the Male Germline: Implications for Clonal Germline Expansions and Paternal Age-Related Dysplasias.
Genome biology and evolution - 1 Feb 2024
Moura Sofia, Hartl Ingrid, Brumovska Veronika, Calabrese Peter P, Yasari Atena, Striedner Yasmin, Bishara Marina, Mair Theresa, Ebner Thomas, Schütz Gerhard J, Sevcsik Eva, Tiemann-Boege Irene
Abstract excerpt
Delayed fatherhood results in a higher risk of inheriting a new germline mutation that might result in a congenital disorder in the offspring. In particular, some FGFR3 mutations increase in frequency with age, but there are still a large number of uncharacterized FGFR3 mutations that could be expanding in the male germline with potentially early- or late-onset effects in the offspring. Here, we used digital...
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