Article
BRPF1-associated syndrome: A patient with congenital ptosis, neurological findings, and normal intellectual development.
American journal of medical genetics. Part A - 1 Jun 2022
Souza Josiane, do Valle Daniel Almeida, Santos Mara Lucia Schmidt Ferreira, Colomé Fernanda Bonilla, Teive Helio Afonso Ghizoni, da Silva Freitas Renato, Herai Roberto Hirochi
Abstract excerpt
In 2017, Mattiolli et al. and Yan et al. described a series of patients with clinical findings essentially characterized by intellectual disabilities, ptosis, hypotonia, epilepsy, and weakness. They also found in these patients distinct heterozygous mutations in the BRPF1 gene, which plays a role in epigenetic regulation by promoting histone acetylation. The disease is known as Intellectual Developmental Disorder...
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