Two sisters with cardiac-urogenital syndrome secondary to pathogenic splicing variant in the MYRF gene with unaffected parents: A case of gonadal mosaicism?

CONCLUSIONS: To our knowledge, this is the first published case of familial cardiac-urogenital syndrome indicating gonadal mosaicism.PMID:36695166 | DOI:10.1002/mgg3.2139

Source: Molecular Medicine - January 25, 2023 Category: Molecular Biology Authors: Katerina Slaba Marta Jezova Petra Pokorna Hana Palova Jana Tuckova Jan Papez Dagmar Prochazkova Petr Jabandziev Ondrej Slaby Source Type: research