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

BACKGROUND: Cardiac‐urogenital syndrome [MIM # 618280] is a newly described very rare syndrome associated with pathogenic variants in the myelin regulatory factor (MYRF) gene that leads to loss of protein function. MYRF is a transcription factor previously associated only with the control of myelin‐...

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Detalles Bibliográficos
Autores principales: Slaba, Katerina, Jezova, Marta, Pokorna, Petra, Palova, Hana, Tuckova, Jana, Papez, Jan, Prochazkova, Dagmar, Jabandziev, Petr, Slaby, Ondrej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2023
Materias:
Clinical Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10178803/
https://www.ncbi.nlm.nih.gov/pubmed/36695166
http://dx.doi.org/10.1002/mgg3.2139

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