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Article

Report of two children with global developmental delay in association with de novo TLK2 variant and literature review.

American journal of medical genetics. Part A - 1 Mar 2022

Woods Emily, Spiller Michael, Balasubramanian Meena

Abstract excerpt

We describe clinical details, including novel findings, of two further children with the newly defined TLK2-related disorder. One patient was recruited to the Deciphering Developmental Delay (DDD) Study to identify underlying etiology of global developmental delay. The other was detected on whole-exome sequencing as part of second line investigations following normal microarray. Both patients were found to have...

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PMID: 34821460
DOI: 10.1002/ajmg.a.62580

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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