A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly
Author:
Publisher
Elsevier BV
Subject
Genetics (clinical),Genetics
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1. Chronic pharmacologic manipulation of dopamine transmission ameliorates metabolic disturbance in Trappc9-linked brain developmental syndrome;JCI Insight;2024-06-18
2. Cortex Folding by Combined Progenitor Expansion and Adhesion-Controlled Neuronal Migration;2024-05-08
3. Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies;Journal of Human Genetics;2024-03-11
4. Microcephaly with a disproportionate hippocampal reduction, stem cell loss and neuronal lipid droplet symptoms in Trappc9 KO mice;Neurobiology of Disease;2024-03
5. Chronic pharmacologic manipulation of dopamine transmission ameliorates metabolic disturbance in syndrome caused by mutated trappc9;2024-02-14
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