Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay

The ETS2 repressor factor (ERF) is a transcription factor in the RAS-MEK-ERK signal transduction cascade that regulates cell proliferation and differentiation, and pathogenic sequence variants in the ERF gene cause variable craniosynostosis inherited in an autosomal dominant pattern. The reported ER...

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Publicado en:Cold Spring Harb Mol Case Stud
Autores principales: Singh, Ram, Cohen, Ana S.A., Poulton, Cathryn, Hjortshøj, Tina Duelund, Akahira-Azuma, Moe, Mendiratta, Geetu, Khan, Wahab A., Azmanov, Dimitar N., Woodward, Karen J., Kirchhoff, Maria, Shi, Lisong, Edelmann, Lisa, Baynam, Gareth, Scott, Stuart A., Jabs, Ethylin Wang
Formato: Artigo
Lenguaje:Inglês
Publicado: Cold Spring Harbor Laboratory Press 2021
Materias:
Research Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8208047/
https://ncbi.nlm.nih.gov/pubmed/34117072
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a005991
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