Article

Mutations of the Histone Linker H1-4: An Expanded Cohort and Functional Characterization of Frameshift Mutant H1.4 in Neurons

2020-12-31

Abstract excerpt

<title>Abstract</title> <p><bold><underline>Background:</underline> </bold>Rahman syndrome (RMNS) is a rare genetic disorder characterized by mild to severe intellectual disability, hypotonia, anxiety, autism spectrum disorder, vision problems, brittle bones, and dysmorphic facies. <italic>De novo</italic> heterozygous mutations in <italic>H1-4</italic> (<italic>HIST1H1E</italic>) encoding the linker histone H1.4...

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Literature Corpus work: 60fd86ae-bd16-56f1-8868-2d2c9b9a243d
DOI: 10.21203/rs.3.rs-135774/v1

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