Co-Occurring Heterozygous <i>CNOT3</i> and <i>SMAD6</i> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype

Co-Occurring Heterozygous <i>CNOT3</i> and <i>SMAD6</i> Truncating Variants: Unusual Presentation and Refinement of the IDDSADF Phenotype

<b>Objective</b>, the application of genomic sequencing in clinical practice has allowed us to appreciate the contribution of co-occurring pathogenic variants to complex and unclassified clinical phenotypes. Besides the clinical relevance, these findings have provided evidence of previou...

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Bibliographic Details
Main Authors: Priolo Manuela, Radio Francesca Clementina, Pizzi Simone, Pintomalli Letizia, Pantaleoni Francesca, Mancini Cecilia, Cordeddu Viviana, Africa Emilio, Mammì Corrado, Dallapiccola Bruno, Tartaglia Marco
Format: Article
Language:English
Published: MDPI AG 2021-06-01
Series:Genes
Subjects:
IDDSADF
<i>CNOT3</i>
facial features profiling
<i>SMAD6</i>
aortic coarctation
bicuspid aortic valve
Online Access:https://www.mdpi.com/2073-4425/12/7/1009

Internet

https://www.mdpi.com/2073-4425/12/7/1009

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