Article

The First Description of Monozygotic Twin Females Discordant for the Craniofrontonasal Syndrome Phenotype and the Report of Four Novel Pathogenic Variants in the EFNB1 Gene

2021-04-06

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Craniofrontonasal syndrome (CFNS) is a rare X-linked disorder that results from pathogenic variants in the <italic>EFNB1 </italic>gene. The syndrome paradoxically presents with greater severity of the symptoms in heterozygous females than hemizygous males.<bold>Results: </bold>Our primary finding was<bold> </bold>the description of monozygotic twins, i.e., patie...

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Literature Corpus work: 6f8fa81f-9fad-5966-9978-643ac148bb25
DOI: 10.21203/rs.3.rs-386853/v1

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