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Loss of PHF6 leads to aberrant development of human neuron-like cells

Pathogenic variants in PHD finger protein 6 (PHF6) cause Borjeson–Forssman–Lehmann syndrome (BFLS), a rare X-linked neurodevelopmental disorder, which manifests variably in both males and females. To investigate the mechanisms behind overlapping but distinct clinical aspects between genders, we asse...

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Detalhes bibliográficos
Publicado no:Sci Rep
Main Authors: Fliedner, Anna, Gregor, Anne, Ferrazzi, Fulvia, Ekici, Arif B., Sticht, Heinrich, Zweier, Christiane
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7642390/
https://ncbi.nlm.nih.gov/pubmed/33149206
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-020-75999-2
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