Article

A Chinese Family with Noonan Syndrome Associated with a Heterozygous LZTR1 Mutation

2020-05-22

Abstract excerpt

<title>Abstract</title> <p>Background Noonan syndrome (NS) is a multisystem disorder resulting from pathogenic mutations in more than 15 genes, among which <italic>LZTR1</italic> is newly discovered. However, its role in NS pathogenesis remains unclear, including its inheritance pattern. Methods We herein report a family with <italic>LZTR-</italic>related NS. We collected clinical data of the proband and her fa...

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Literature Corpus work: d1b5e28b-67c2-50d0-b492-d464638e9827
DOI: 10.21203/rs.3.rs-29902/v1

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