Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c. 5395G > A p.( Glu1799Lys ) missense variant-Reference-Cited by-同舟云学术

Delineating the Smith‐Kingsmore syndrome phenotype: Investigation of 16 patients with the MTOR c. 5395G > A p.( Glu1799Lys ) missense variant

Published:2021-05-25 Issue:8 Volume:185 Page:2445-2454
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Poole Rebecca L.¹²^ORCID,Curry Philippa D. K.³,Marcinkute Ruta⁴,Brewer Carole⁵,Coman David⁶,Hobson Emma⁷,Johnson Diana⁸,Lynch Sally Ann⁹,Saggar Anand¹⁰,Searle Claire¹¹,Scurr Ingrid¹²,Turnpenny Peter D.⁵,Vasudevan Pradeep¹³,Tatton‐Brown Katrina³¹⁰

Affiliation:

1. NHS Education for Scotland South East Region, South East of Scotland Clinical Genetics Service Edinburgh UK

2. University College London London UK

3. St George's University of London London UK

4. Department of Clinical Genetics Guys and St Thomas' NHS Foundation Trust London UK

5. Department of Clinical Genetics, Royal Devon & Exeter NHS Foundation Trust Exeter UK

6. Department of Metabolic Medicine Queensland Children's Hospital Queensland Australia

7. Department of Clinical Genetics Leeds Teaching Hospitals NHS Trust Leeds UK

8. Department of Clinical Genetics Sheffield Children's NHS Foundation Trust Sheffield UK

9. Department of Clinical Genetics Temple Street Children's University Hospital Dublin Ireland

10. South West Thames Regional Genetics Department St George's University Hospitals NHS Foundation Trust London UK

11. Department of Clinical Genetics Nottingham University Hospitals NHS Trust Nottingham UK

12. Department of Clinical Genetics University Hospital Bristol and Western NHS Foundation Trust Bristol UK

13. Department of Clinical Genetics University Hospitals of Leicester NHS Trust Leicester UK

Funder

Baily Thomas Charitable Fund

Medical Research Council

Cancer Research UK

Wellcome Trust

National Institute for Health Research

Department of Health, Australian Government

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62350

Reference33 articles.

1. De novo mutations in epileptic encephalopathies

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4. mTOR Signaling, Translational Control, and the Circadian Clock

5. British 1990 growth reference centiles for weight, height, body mass index and head circumference fitted by maximum penalized likelihood

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1. Smith-Kingsmore syndrome with nystagmus as the initial symptom;Acta Epileptologica;2023-10-13

2. A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy;European Journal of Medical Genetics;2022-12

3. Detailed Clinical and Functional Studies of New MTOR Variants in Smith-Kingsmore Syndrome Reveal Deficits of Circadian and Sleep Homeostasis;2022-02-21