Article

A novel pathogenic DICER1 variant is associated with heriditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis

2024-11-08

Abstract excerpt

<title>Abstract</title> <p>DICER1 syndrome is an autosomal-dominant disorder that results in malignant or benign tumors. A number of distinct pathogenic germline and somatic variants have been identified as causing multinodular goiter (MNG). The purpose of the present study was to identify and characterize the genetic cause underlying the familial form of MNG through a whole-exome sequencing (WES) analysis in an...

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Literature Corpus work: eebeb117-1ad3-54d9-9357-145fcd17f46b
DOI: 10.21203/rs.3.rs-5187907/v1

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