Broadening the ocular phenotypic spectrum of ultra-rare <i>BRPF1</i> variants: report of two cases-Reference-Cited by-同舟云学术

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Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases

Published:2024-04-08 Issue:4 Volume:45 Page:390-394
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Marziali Elisa¹^ORCID,Landini Samuela²^ORCID,Fiorentini Erika³,Rocca Camilla³^ORCID,Tiberi Lucia²,Artuso Rosangela²^ORCID,Zaroili Laila²^ORCID,Dirupo Elia²,Fortunato Pina¹^ORCID,Bargiacchi Sara²^ORCID,Caputo Roberto¹^ORCID,Bacci Giacomo Maria¹^ORCID

Affiliation:

1. Pediatric Ophthalmology Unit, Meyer Children’s Hospital IRCSS, Florence, Italy

2. Medical Genetics Unit, Meyer Children’s Hospital IRCSS, Florence, Italy

3. Department of Clinical and Experimental Biomedical Sciences “Mario Serio”, University of Florence, Florence, Italy

Funder

Ministry of Health

Publisher

Informa UK Limited

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2024.2337879

Reference18 articles.

1. Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

2. Mutations in the Chromatin Regulator Gene BRPF1 Cause Syndromic Intellectual Disability and Deficient Histone Acetylation

3. Prevalence and architecture of de novo mutations in developmental disorders

4. Novel BRPF1 mutation in a boy with intellectual disability, coloboma, facial nerve palsy and hypoplasia of the corpus callosum

5. Whole Exome Sequencing in Coloboma/Microphthalmia: Identification of Novel and Recurrent Variants in Seven Genes

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