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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Detalles Bibliográficos
Publicado en:Front Genet
Autores principales: Naseer, Muhammad Imran, Abdulkareem, Angham Abdulrahman, Guzmán-Vega, Francisco J., Arold, Stefan T., Pushparaj, Peter Natesan, Chaudhary, Adeel G., AlQahtani, Mohammad H.
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2020
Materias:
Genetics
Acceso en línea: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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