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

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

Abstract 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 ca...

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Bibliographic Details
Main Authors: Lidia Pezzani, Laura Pezzoli, Alessandra Pansa, Barbara Facchinetti, Daniela Marchetti, Agnese Scatigno, Anna R. Lincesso, Loredana Perego, Monica Pingue, Isabella Pellicioli, Lucia Migliazza, Giovanna Mangili, Lorenzo Galletti, Ursula Giussani, Ezio Bonanomi, Anna Cereda, Maria Iascone
Format: Article
Language:English
Published: Wiley 2020-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
CEP57
composite phenotype
double homozygosity
DYNC2H1
WES
Online Access:https://doi.org/10.1002/mgg3.1064

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