Biallelic MAPKAPK5 pathogenic variants are associated with a distinct syndromic neurodevelopmental disorder with craniofacial, digital and neuroradiological abnormalities (2023)

First Author: Efthymiou Stephanie

Attributed to: Leveraging the power of genomics and transcriptomics to revolutionise the diagnosis and understanding of neurological disorders funded by MRC

No abstract provided

Type: Conference/Paper/Proceeding/Abstract

Volume: 31

Parent Publication: EUROPEAN JOURNAL OF HUMAN GENETICS

ISSN: 1018-4813