KAT6A syndrome: Advances on the genetic bases and clinical picture of a rare disease

(University of Barcelona) A research team has described five new cases of a rare disease -- known as KAT6A syndrome -- of which there are only eighty dominant cases worldwide. This neurological and developmental disorder, caused by alterations in the lysine acetyltransferase 6A gene (KAT6A), involves intellectual disability, language impairment, low muscle tone, cardiovascular malformation and eye defects, among other affectations.
Source: EurekAlert! - Biology - Category: Biology Source Type: news

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Source: International Journal of Environmental Research and Public Health - Category: Environmental Health Authors: Tags: Article Source Type: research
In this study, ...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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Source: Epilepsy Curr - Category: Neurology Authors: Tags: Curr Rheumatol Rep Source Type: research
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Source: Current Rheumatology Reports - Category: Rheumatology Source Type: research
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Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
Pathogenic variants of the lysine acetyltransferase 6A or KAT6A gene are associated with a newly identified neurodevelopmental disorder characterized mainly by intellectual disability of variable severity and spe...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Research Source Type: research
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Source: EyeForPharma - Category: Pharmaceuticals Authors: Source Type: news
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