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Updated: Jun 15, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Association of the long QT syndrome With goiter and deafness
Sami Gritli1, Mamia Ben Salah, Abdessalem Shili
1Cardiovascular Research Center, Developmental Biology Laboratory, Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts, USA. gritli@helix.mgh.harvard.edu
Abstract:
We report on the long QT syndrome occurring in conjunction with nontoxic multinodular goiter and sensorineural deafness in several siblings of a large family. Autosomal and X-linked recessive and dominant modes of inheritance are possible for the different phenotypes. The affected family members had various phenotype combinations, suggesting variable expressivity and incomplete penetrance.
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