Atypical, Composite, or Blended Phenotypes: How Different Molecular Mechanisms Could Associate in Double-Diagnosed Patients

In the last few years, trio-Whole Exome Sequencing (WES) analysis has revolutionized the diagnostic process for patients with rare genetic syndromes, demonstrating its potential even in non-specific clinical pictures and in atypical presentations of known diseases. Multiple disorders in a single pat...

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Detalles Bibliográficos
Autores principales: Rosina, Erica, Pezzani, Lidia, Pezzoli, Laura, Marchetti, Daniela, Bellini, Matteo, Pilotta, Alba, Calabrese, Olga, Nicastro, Emanuele, Cirillo, Francesco, Cereda, Anna, Scatigno, Agnese, Milani, Donatella, Iascone, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319862/
https://www.ncbi.nlm.nih.gov/pubmed/35886058
http://dx.doi.org/10.3390/genes13071275

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9319862/
https://www.ncbi.nlm.nih.gov/pubmed/35886058
http://dx.doi.org/10.3390/genes13071275

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