A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome-Reference-Cited by-同舟云学术

A novel IGSF1 mutation in a large Irish kindred highlights the need for familial screening in the IGSF1 deficiency syndrome

Published:2018-10-01 Issue:6 Volume:89 Page:813-823
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Roche Edna F.¹²,McGowan Anne³,Koulouri Olympia³,Turgeon Marc-Olivier⁴,Nicholas Adeline K.³,Heffernan Emmeline⁵,El-Khairi Ranna⁶⁷,Abid Noina⁵,Lyons Greta³,Halsall David⁸,Bonomi Marco⁹¹⁰^ORCID,Persani Luca⁹¹⁰,Dattani Mehul T.¹¹,Gurnell Mark³,Bernard Daniel J.⁴,Schoenmakers Nadia³^ORCID

Affiliation:

1. Department of Paediatric Growth, Diabetes and Endocrinology; National Children's Hospital; Tallaght University Hospital; Dublin Ireland

2. Trinity College Dublin; The University of Dublin; Dublin Ireland

3. Wellcome Trust-Medical Research Council Institute of Metabolic Science; Addenbrooke's Hospital and National Institute for Health Research Cambridge Biomedical Research Centre; Addenbrooke's Hospital; University of Cambridge Metabolic Research Laboratories; Cambridge UK

4. Department of Pharmacology and Therapeutics; McGill University; Montréal Québec Canada

5. Department of Paediatric Endocrinology & Diabetes; Royal Belfast Hospital for Sick Children; Belfast UK

6. Wellcome Trust-Medical Research Council Stem Cell Institute; Anne McLaren Laboratory, Department of Surgery; University of Cambridge; Cambridge UK

7. Wellcome Trust Sanger Institute; Cambridge UK

8. Department of Clinical Biochemistry; Cambridge University Hospitals NHS Foundation Trust; Cambridge UK

9. Department of Clinical Sciences and Community Health; University of Milan; Milan Italy

10. Division of Endocrinology and Metabolism; IRCCS Istituto Auxologico Italiano; Milan Italy

11. Section of Genetics and Epigenetics in Health and Disease; Genetics and Genomic Medicine Programme; University College London Great Ormond Street Institute of Child Health; London UK

Funder

Wellcome Trust

National Institute for Health Research

Canadian Institutes of Health Research

Natural Sciences and Engineering Research Council of Canada

Ministero della Salute

Medical Research Council

Great Ormond Street Hospital Children’s Charity

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology