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

Objective, 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 previously unrecognized fu...

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Detalles Bibliográficos
Autores principales: Priolo, Manuela, Radio, Francesca Clementina, Pizzi, Simone, Pintomalli, Letizia, Pantaleoni, Francesca, Mancini, Cecilia, Cordeddu, Viviana, Africa, Emilio, Mammì, Corrado, Dallapiccola, Bruno, Tartaglia, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303239/
https://www.ncbi.nlm.nih.gov/pubmed/34208845
http://dx.doi.org/10.3390/genes12071009

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303239/
https://www.ncbi.nlm.nih.gov/pubmed/34208845
http://dx.doi.org/10.3390/genes12071009

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