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Article

Bi-allelic TTC5 variants cause delayed developmental milestones and intellectual disability.

Journal of medical genetics - 1 Apr 2021

Rasheed Arisha, Gumus Evren, Zaki Maha, Johnson Katherine, Manzoor Humera, LaForce Geneva, Ross Danica, McEvoy-Venneri Jennifer, Stanley Valentina, Lee Sangmoon, Virani Abbir, Ben-Omran Tawfeg, Gleeson Joseph G, Naz Sadaf, Schaffer Ashleigh

Abstract excerpt

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: Clinical analyses were performed for eight patients with intellectual disability (ID). Whole-exome sequencing for selected participants followed by Sanger...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 32439809
DOI: 10.1136/jmedgenet-2020-106849
PMCID: PMC9648057

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