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Article

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

Genes - 19 Jul 2022

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

Abstract excerpt

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 patient have been estimated to occur in approximately 2-7.5% of diagnosed cases, with higher frequency in...

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Identifiers

PMID: 35886058
DOI: 10.3390/genes13071275
PMCID: PMC9319862

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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