Am J Med Genet A
. 2022 Apr 1. doi: 10.1002/ajmg.a.62744. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/35365939/
Diverse clinical manifestations and intrafamilial variability due to an inherited recurrent MYRF variant
- PMID: 35365939
- DOI: 10.1002/ajmg.a.62744
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 variability.
Keywords: MYRF; cardiac abnormalities; congenital diaphragmatic hernia; nanophthalmos; urogenital abnormalities.
© 2022 Wiley Periodicals LLC.