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

Molecular genetics & genomic medicine（2023）

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摘要

To our knowledge, this is the first published case of familial cardiac-urogenital syndrome indicating gonadal mosaicism.

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关键词

MYRF gene,Scimitar syndrome,cardiac-urogenital syndrome,familiar occurrence,whole-exome sequencing

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