Further Delineation of Central Congenital Hypothyroidism due to Variants in <i>TBL1X</i> and <i>IRS4</i>-Reference-Cited by-同舟云学术

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Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4

Published:2023-07-01 Issue:7 Volume:33 Page:880-884
ISSN:1050-7256
Container-title:Thyroid®
language:en
Short-container-title:Thyroid®

Author:

Lauffer Peter¹²^ORCID,Naafs Jolanda C.¹,Bikker Hennie³,Garrelfs Mark R.¹,Mooij Christiaan F.¹^ORCID,Boelen Anita²⁴,Zwaveling-Soonawala Nitash¹²,van Trotsenburg A. S. Paul¹²^ORCID

Affiliation:

1. Department of Pediatric Endocrinology, Emma Children's Hospital, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

2. Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam, The Netherlands.

3. Department of Human Genetics and Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

4. Endocrine Laboratory, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2022.0675

Reference10 articles.

1. Clinical and genetic characteristics of Dutch children with central congenital hypothyroidism, early detected by neonatal screening

2. Diagnosis and Management of Central Congenital Hypothyroidism

3. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

4. Mutations in TBL1X Are Associated With Central Hypothyroidism

5. Mutations in IRS4 are associated with central hypothyroidism

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