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Article

Diagnostic yield of whole-exome sequencing in non-syndromic intellectual disability.

Journal of intellectual disability research : JIDR - 1 Jun 2021

Taşkıran E Z, Karaosmanoğlu B, Koşukcu C, Ürel-Demir G, Akgün-Doğan Ö, Şimşek-Kiper P Ö, Alikaşifoğlu M, Boduroğlu K, Utine G E

Abstract excerpt

BACKGROUND: Aetiological diagnosis in non-syndromic intellectual disability (NSID) still poses a diagnostic challenge to clinicians. METHODS: Screening is currently achieved by chromosomal microarrays followed by whole-exome sequencing (WES). In search for the aetiological yield of WES in patients with NSID, 59 unrelated patients were studied. RESULTS: Among the 59 patients, 44 (74.6%) were from consanguineous...

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PMID: 33739554
DOI: 10.1111/jir.12835

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