Increased referrals for congenital hyperinsulinism genetic testing in children with trisomy 21 reflects the high burden of non‐genetic risk factors in this group

Author:

Hewat Thomas I.1ORCID,Laver Thomas W.1,Houghton Jayne A. L.2,Männistö Jonna M. E.3,Alvi Sabah4,Brearey Stephen P.5,Cody Declan6,Dastamani Antonia7,De los Santos La Torre Miguel8ORCID,Murphy Nuala9,Rami‐Merhar Birgit10ORCID,Wefers Birgit11,Huopio Hanna12,Banerjee Indraneel13,Johnson Matthew B.1,Flanagan Sarah E.1ORCID

Affiliation:

1. Institute of Biomedical and Clinical Science University of Exeter Medical School Exeter UK

2. Exeter Genomics Laboratory Royal Devon and Exeter NHS Foundation Trust Exeter UK

3. Department of Pediatrics University of Eastern Finland and Kuopio University Hospital Kuopio Finland

4. Leeds Children's Hospital Leeds UK

5. Countess of Chester Hospital Chester UK

6. Children's Health Ireland at Crumlin Dublin Ireland

7. Endocrinology Department Great Ormond Street Hospital for Children NHS Foundation Trust London UK

8. Department of Endocrinology and Metabolism of the Instituto Nacional de Salud del Niño Lima Peru

9. Children's University Hospital Dublin Ireland

10. Department of Pediatric and Adolescent Medicine Medical University of Vienna Vienna Austria

11. Ninewells Hospital Dundee UK

12. Department of Pediatrics Kuopio University Hospital Kuopio Finland

13. Department of Paediatric Endocrinology Royal Manchester Children's Hospital Manchester UK

Funder

Research England

Royal Society

Wellcome Trust

Publisher

Hindawi Limited

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health,Internal Medicine

Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Syndromic forms of congenital hyperinsulinism;Frontiers in Endocrinology;2023-03-30

2. Thyroid hormone biosynthesis and its role in brain development and maintenance;Advances in Protein Chemistry and Structural Biology;2023

3. Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review;Reviews in Endocrine and Metabolic Disorders;2022-08-23

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