Clinical and neuroimaging findings in 33 patients with MCAP syndrome: a survey to evaluate relevant endpoints for future clinical trials.

CONCLUSION: This study confirms the main known clinical features that defines MCAP syndrome. Taking into account the phenotypic heterogeneity in MCAP patients, in the context of emerging clinical trials, we suggest that patients should be evaluated based on the main neurocognitive expression on each patient. This article is protected by copyright. All rights reserved. PMID: 33415748 [PubMed - as supplied by publisher]

https://www.ncbi.nlm.nih.gov/pubmed/33415748?dopt=Abstract

Source: Clinical Genetics - January 7, 2021 Category: Genetics & Stem Cells Authors: Garde A, Guibaud L, Goldenberg A, Petit F, Dard R, Roume J, Mazereeuw-Hautier J, Chassaing N, Lacombe D, Morice-Picard F, Toutain A, Arpin S, Boccara O, Touraine R, Blanchet P, Coubes C, Willems M, Pinson L, Khau Van Kien P, Chiaverini C, Giuliano F, Ales Tags: Clin Genet Source Type: research