Article

Co-existence of Cohen Syndrome and Pendred Syndrome? Diagnostic Challenges Associated With Presence of Multiple Genomic Variants in the Newborn: A Case Report

2020-10-21

Abstract excerpt

<title>Abstract</title> <p>BackgroundCohen syndrome is a multisystem autosomal recessive hereditary disease, which is caused by variants of the <italic>VPS13B</italic> gene. The clinical manifestations include characteristic facial features, microcephaly, trunk obesity and mental retardation. The <italic>SLC26A4</italic> gene encodes an anion transporter called Pendrin, the variants of <italic>SLC26A4</italic> le...

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Literature Corpus work: c52220f8-bf41-564e-8c99-c90a55021822
DOI: 10.21203/rs.3.rs-93977/v1

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