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COVONE , A. E

Last name: COVONE

First name: A. E

2016 (v1)

Publication

Metadata-only

WES in a family trio suggests involvement of TECPR2 in a complex form of progressive motor neuron disease

Covone, A. E FIORILLO, CHIARA Acquaviva, M.

We have performed whole-exome sequencing in a family trio with a 16-year-old girl suffering of progressive motor neuron disease. There was no family history of the disease and no parental consanguinity. Our exome analysis indicated the proband as a compound heterozygote for two missense variants in the TECPR2 gene according to a recessive mode...

Uploaded on: April 14, 2023