Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?
Slaba K, Jezova M, Pokorna P, Palova H, Tuckova J, Papez J, Prochazkova D, Jabandziev P, Slaby O. Mol Genet Genomic Med. 2023 May; 11(5):e2139. Epub 2023 Jan 25.