Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Katerina SlabaMarta JezovaPetra PokornaHana PalovaJana TuckovaJan PapezDagmar ProchazkovaPetr JabandzievOndřej SlabýPublished in: Molecular genetics & genomic medicine (2023)
To our knowledge, this is the first published case of familial cardiac-urogenital syndrome indicating gonadal mosaicism.