Complex Presentation of Hao-Fountain Syndrome Solved by Exome Sequencing Highlighting Co-Occurring Genomic Variants

Objective: The co-occurrence of pathogenic variants has emerged as a relatively common finding underlying complex phenotypes. Here, we used whole-exome sequencing (WES) to solve an unclassified multisystem clinical presentation. Patients and Methods: A 20-year-old woman affected by moderate intellec...

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Detalles Bibliográficos
Autores principales: Priolo, Manuela, Mancini, Cecilia, Pizzi, Simone, Chiriatti, Luigi, Radio, Francesca Clementina, Cordeddu, Viviana, Pintomalli, Letizia, Mammì, Corrado, Dallapiccola, Bruno, Tartaglia, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141324/
https://www.ncbi.nlm.nih.gov/pubmed/35627274
http://dx.doi.org/10.3390/genes13050889

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9141324/
https://www.ncbi.nlm.nih.gov/pubmed/35627274
http://dx.doi.org/10.3390/genes13050889

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