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

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 asso...

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Detalhes bibliográficos
Publicado no:Hum Mutat
Main Authors: Salpietro, Vincenzo, Efthymiou, Stephanie, Manole, Andreea, Maurya, Bhawana, Wiethoff, Sarah, Ashokkumar, Balasubramaniem, Cutrupi, Maria Concetta, Dipasquale, Valeria, Manti, Sara, Botia, Juan A., Ryten, Mina, Vandrovcova, Jana, Bello, Oscar D., Bettencourt, Conceicao, Mankad, Kshitij, Mukherjee, Ashim, Mutsuddi, Mousumi, Houlden, Henry
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2017
Assuntos:
Brief Reports
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5814734/
https://ncbi.nlm.nih.gov/pubmed/29127725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23368
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