M

MUKHERJEE A.

Last name: MUKHERJEE A.

2018 (v1)

Publication

Metadata-only

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function

Salpietro V. Efthymiou S. Manole A.

We report on a homozygous frameshift deletion in DDX59 (c.185del: p.Phe62fs*13) in a family presenting with orofaciodigital syndrome phenotype associated with a broad neurological involvement characterized by microcephaly, intellectual disability, epilepsy, and white matter signal abnormalities associated with cortical and subcortical ischemic...

Uploaded on: April 14, 2023