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

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

Abstract 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...

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Bibliographic Details
Main Authors: Katerina Slaba, Marta Jezova, Petra Pokorna, Hana Palova, Jana Tuckova, Jan Papez, Dagmar Prochazkova, Petr Jabandziev, Ondrej Slaby
Format: Article
Language:English
Published: Wiley 2023-05-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cardiac‐urogenital syndrome
familiar occurrence
MYRF gene
Scimitar syndrome
whole‐exome sequencing
Online Access:https://doi.org/10.1002/mgg3.2139

Internet

https://doi.org/10.1002/mgg3.2139

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