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

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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Bibliographic Details
Main Authors: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Francisco J. Guzmán-Vega, Stefan T. Arold, Peter Natesan Pushparaj, Adeel G. Chaudhary, Mohammad H. AlQahtani
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-05-01
Series:Frontiers in Genetics
Subjects:
BRPF1
dysmorphic facies
intellectual developmental disorder
ptosis
Saudi family
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2020.00368/full

Internet

https://www.frontiersin.org/article/10.3389/fgene.2020.00368/full

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