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Many cognitive neurodevelopmental disorders are a result of too many or too few copies of certain genes or chromosomes. To date, no treatment options exist for this class of disorders. MECP2 duplication syndrome (MDS) is one such disorder that primarily affects boys and results from a duplication spanning the methyl-CpG binding protein 2 (MECP2) locus […]
Alstrom syndrome has been the focus of attention, among other ciliopathies, in research on the biological functions of cilia as well as the best mode of treatment of these disorders. The ALMS1 gene has been associated with this condition. Physiological Roles of ALMS1 Protein The ALMS1 gene has been the locus of research because of […]