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SELICORNI , A.

Last name: SELICORNI

First name: A.

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
2024 (v1)

Publication

Metadata-only

The clinical management of children with achondroplasia in Italy: results of clinician and parent/caregiver surveys

Bedeschi, M. F. Mora, S. Antoniazzi, F.

PurposeThis study aimed to assess the real-world management of achondroplasia in Italy.MethodsTwo online surveys addressed to (1) parents/caregivers of individuals with achondroplasia and (2) Italian clinicians managing individuals with achondroplasia were conducted to assess real-world perspectives on achondroplasia management. Both surveys...

Uploaded on: July 3, 2024