DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom-Reference-Cited by-同舟云学术

DUOX2/DUOXA2 Mutations Frequently Cause Congenital Hypothyroidism that Evades Detection on Newborn Screening in the United Kingdom

Published:2019-06 Issue:6 Volume:29 Page:790-801
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Peters Catherine¹,Nicholas Adeline K.²,Schoenmakers Erik²,Lyons Greta²,Langham Shirley¹,Serra Eva G.³,Sebire Neil J.⁴,Muzza Marina⁵,Fugazzola Laura⁵⁶,Schoenmakers Nadia²

Affiliation:

1. Department of Endocrinology and Great Ormond Street Hospital for Children, London, United Kingdom.

2. Department of Laboratory Medicine, Great Ormond Street Hospital for Children, London, United Kingdom.

3. University of Cambridge Metabolic Research Laboratories, Wellcome Trust-Medical Research Council Institute of Metabolic Science, Addenbrooke's Hospital, Cambridge, United Kingdom.

4. Department of Human Genetics, The Wellcome Trust Sanger Institute, Hinxton, United Kingdom.

5. Division of Endocrinology and Metabolic Diseases, IRCCS Istituto Auxologico Italiano, Milan, Italy.

6. Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2018.0587

Reference35 articles.

1. Screening for congenital hypothyroidism: the first decade.

2. Outcome for congenital hypothyroidism.