Article
Mutations of the histone linker H1-4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4.
Human molecular genetics - 4 May 2022
Tremblay Martine W, Green Matthew V, Goldstein Benjamin M, Aldridge Andrew I, Rosenfeld Jill A, Streff Haley, Tan Wendy D, Craigen William, Bekheirnia Nasim, Al Tala Saeed, West Anne E, Jiang Yong-Hui
Abstract excerpt
Rahman syndrome (RMNS) is a rare genetic disorder characterized by mild to severe intellectual disability, hypotonia, anxiety, autism spectrum disorder, vision problems, bone abnormalities and dysmorphic facies. RMNS is caused by de novo heterozygous mutations in the histone linker gene H1-4; however, mechanisms underlying impaired neurodevelopment in RMNS are not understood. All reported mutations associated...
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