Novel loss-of-function mutation in HERC2 is associated with severe developmental delay and paediatric lethality

BACKGROUND: The HERC2 gene encodes a 527 kDa E3 ubiquitin protein ligase that has key roles in cell cycle regulation, spindle formation during mitosis, mitochondrial functions and DNA damage responses. It has essential roles during embryonic development, particularly for neuronal and muscular functi...

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Detalles Bibliográficos
Autores principales: Elpidorou, Marilena, Best, Sunayna, Poulter, James A, Hartill, Verity, Hobson, Emma, Sheridan, Eamonn, Johnson, Colin A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2021
Materias:
Genotype-Phenotype Correlations
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086253/
https://www.ncbi.nlm.nih.gov/pubmed/32571899
http://dx.doi.org/10.1136/jmedgenet-2020-106873

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8086253/
https://www.ncbi.nlm.nih.gov/pubmed/32571899
http://dx.doi.org/10.1136/jmedgenet-2020-106873

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