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

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

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

Neerja Gupta 1Mounika Endrakanti 1Noopur Gupta 2Vatsla Dadhwal 3Kamal Naini 1Smita Manchanda 4Ragib Khan 2Manisha Jana 4Affiliations expand

Abstract

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.

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