Article

A Novel Frameshift Mutation in The NHS Gene Causes Nance-Horan Syndrome in a Chinese Family

2021-07-15

Abstract excerpt

<h4>Background: </h4> Nance-Horan syndrome (NHS), also known as cataract-tooth syndrome, is a rare X-linked genetic disorder characterized by congenital cataract as well as dental and craniofacial abnormalities caused by mutations in the NHS gene.In this study,we describe a Chinese family with a frameshift mutation in NHS associated Nance-Horan syndrome, thus expanding the mutational spectrum of this gene. <h4>Met...

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Literature Corpus work: 209a92ab-6db7-5898-91b0-4220a483a551
DOI: 10.21203/rs.3.rs-668043/v1

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