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Article

Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?

Molecular genetics & genomic medicine - 1 Mar 2020

Pezzani Lidia, Pezzoli Laura, Pansa Alessandra, Facchinetti Barbara, Marchetti Daniela, Scatigno Agnese, Lincesso Anna R, Perego Loredana, Pingue Monica, Pellicioli Isabella, Migliazza Lucia, Mangili Giovanna, Galletti Lorenzo, Giussani Ursula, Bonanomi Ezio, Cereda Anna, Iascone Maria

Abstract excerpt

BACKGROUND: In the last few years trio-whole exome sequencing (WES) analysis has demonstrated its potential in obtaining genetic diagnoses even in nonspecific clinical pictures and in atypical presentations of known diseases. Moreover WES allows the detection of variants in multiple genes causing different genetic conditions in a single patient, in about 5% of cases. The resulting phenotype may be clinically...

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PMID: 31943948
DOI: 10.1002/mgg3.1064
PMCID: PMC7057129

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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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