N

V

NIGRO , V.

Last name: NIGRO

First name: V.

2017 (v1)

Publication

Metadata-only

Inflammatory myopathy in a patient with collagen VI mutations

Papa, R Fiorillo, C. MALATTIA, CLARA

No description

Uploaded on: April 14, 2023
2023 (v1)

Publication

Metadata-only

CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories

Amenta, S. Marangi, G. Orteschi, D.

Loss-of-function variants in CHAMP1 were recently described as cause of a neurodevelopmental disorder characterized by intellectual disability (ID), autism, and distinctive facial characteristics. By exome sequencing (ES), we identified a truncating variant in CHAMP1, c.1858A > T (p.Lys620*), in a patient who exhibited a similar phenotype of...

Uploaded on: December 25, 2023