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

Autor: Slaba, Katerina1 (AUTHOR), Jezova, Marta2 (AUTHOR), Pokorna, Petra3 (AUTHOR), Palova, Hana3 (AUTHOR), Tuckova, Jana1 (AUTHOR), Papez, Jan1 (AUTHOR), Prochazkova, Dagmar1,4 (AUTHOR), Jabandziev, Petr1,2 (AUTHOR), Slaby, Ondrej3,5 (AUTHOR) oslaby@med.muni.cz
Zdroj: Molecular Genetics & Genomic Medicine. May2023, Vol. 11 Issue 5, p1-7. 7p.
Databáze: Academic Search Ultimate
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