Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant condition characterized by delayed psychomotor development, intellectual disability, delayed speech, and dysmorphic facial features, mostly ptosis. Heterozygous mutations in bromodomain and plant homeodoma...

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Detalhes bibliográficos
Publicado no:Front Genet
Main Authors: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Guzmán-Vega, Francisco J., Arold, Stefan T., Pushparaj, Peter Natesan, Chaudhary, Adeel G., AlQahtani, Mohammad H.
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2020
Assuntos:
Genetics
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7221184/
https://ncbi.nlm.nih.gov/pubmed/32457794
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00368
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