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Article

Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant

1 Apr 2022

Abstract excerpt

MYRF monoallelic variants have been described in syndromic forms characterized by cardiac-urogenital syndrome and isolated nanophthalmos with/without minor systemic manifestations. We describe a large family with a paternally inherited pathogenic variant in MYRF that manifested as congenital diaphragmatic hernia (CDH), cardiac and urogenital abnormalities, and/or nanophthalmos with significant intrafamilial...

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PMID: 35365939
DOI: 10.1002/ajmg.a.62744

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