Report of two children with global developmental delay in association with de novo TLK2 variant and literature review-Reference-Cited by-同舟云学术

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

Published:2021-11-25 Issue: Volume: Page:
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Woods Emily¹^ORCID,Spiller Michael²,Balasubramanian Meena³⁴^ORCID

Affiliation:

1. Sheffield Children's Hospital NHS Foundation Trust Sheffield UK

2. Sheffield Diagnostic Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

3. Sheffield Clinical Genetics Service Sheffield Children's NHS Foundation Trust Sheffield UK

4. Department of Oncology & Metabolism University of Sheffield Sheffield UK

Funder

Wellcome Trust

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62580

Reference20 articles.

1. Evaluation of the child with global developmental delay and intellectual disability

2. Ellard S. Baple E.L. CallawayA. Berry I. Forrester N. Turnbull C. Owens M. Eccles D.M. Abbs S. Scott R. Deans Z.C. Lester T. Campbell J. Newman W.G(2020).ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2020.https://www.acgs.uk.com/media/11631/uk-practice-guidelines-for-variant-classification-v4-01-2020.pdf

3. Human Tousled like kinases are targeted by an ATM- and Chk1-dependent DNA damage checkpoint

4. Khan I.andLeventhal B.L.(2021).StatPearls [Internet]. Developmental Delay ed. [online] TreasureIsland: StatPearls Publishing.https://www.ncbi.nlm.nih.gov/books/NBK562231/.

5. 22q11.2 microduplication: An enigmatic genetic disorder. Journal of Paediatric;Kylat R.;Genetics,2018

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