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拓宽超罕见 BRPF1 变体的眼部表型谱：两个病例的报告

IF 1.2 4区 医学 Q4 GENETICS & HEREDITY
Ophthalmic Genetics Pub Date : 2024-04-08 DOI:10.1080/13816810.2024.2337879
Elisa Marziali, Samuela Landini, Erika Fiorentini, Camilla Rocca, Lucia Tiberi, Rosangela Artuso, Laila Zaroili, Elia Dirupo, Pina Fortunato, Sara Bargiacchi, Roberto Caputo, Giacomo Maria Bacci
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引用次数: 0

摘要

3p26-p25 上的 BRPF1 基因通过与 MYST 家族的组蛋白 H3 赖氨酸乙酰转移酶 KAT6A 和 KAT6B 相互作用，编码一种参与表观遗传调控的蛋白质。杂合子致病性...
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Broadening the ocular phenotypic spectrum of ultra-rare BRPF1 variants: report of two cases
BRPF1 gene on 3p26-p25 encodes a protein involved in epigenetic regulation, through interaction with histone H3 lysine acetyltransferases KAT6A and KAT6B of the MYST family. Heterozygous pathogenic...
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来源期刊
Ophthalmic Genetics
Ophthalmic Genetics 医学-眼科学
CiteScore
2.40
自引率
8.30%
发文量
126
审稿时长
>12 weeks
期刊介绍： Ophthalmic Genetics accepts original papers, review articles and short communications on the clinical and molecular genetic aspects of ocular diseases.
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