BRPF1‐associated intellectual disability, ptosis, and facial dysmorphism in a multiplex family

BACKGROUND: Over 500 epigenetic regulators have been identified throughout the human genome. Of these, approximately 30 chromatin modifiers have been implicated thus far in human disease. Recently, variants in BRPF1, encoding a chromatin reader, have been associated with a previously unrecognized au...

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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: Pode‐Shakked, Naomi, Barel, Ortal, Pode‐Shakked, Ben, Eliyahu, Aviva, Singer, Amihood, Nayshool, Omri, Kol, Nitzan, Raas‐Rothschild, Annick, Pras, Elon, Shohat, Mordechai
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2019
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6565580/
https://ncbi.nlm.nih.gov/pubmed/31020800
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.665
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