Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability
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DOI: 10.1136/jmedgenet-2020-106849
Abstract: Background Intellectual disability syndromes (IDSs) with or without developmental delays affect up to 3% of the world population. We sought to clinically and genetically characterise a novel IDS segregating in five unrelated consanguineous families. Methods… read more here.
Keywords: ttc5 variants; intellectual disability; variants cause; disability ... See more keywords