A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract-Reference-Cited by-同舟云学术

A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract

Published:2013-09 Issue:9 Volume:23 Page:1074-1078
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Carvalho Ana¹,Hermanns Pia²,Rodrigues Ana-Luísa¹,Sousa Isabel³,Anselmo João³,Bikker Hennie⁴,Cabral Rita⁵,Pereira-Duarte Carlos¹,Mota-Vieira Luísa⁵,Pohlenz Joachim²

Affiliation:

1. Department of Pediatrics, Hospital of Divino Espirito Santo, Ponta Delgada, Portugal.

2. Department of Pediatrics, Children's Hospital, Johannes-Gutenberg University, Mainz, Germany.

3. Department of Endocrinology & Nutrition, Hospital of Divino Espirito Santo, Ponta Delgada, Portugal.

4. Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands.

5. Department of Molecular Genetics and Pathology Unit, Hospital of Divino Espirito Santo, Ponta Delgada, Portugal.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2012.0649

Reference18 articles.

1. Prevalence of Congenital Hypothyroidism—Current Trends and Future Directions: Workshop Summary

2. Developmental Abnormalities of the Thyroid

3. Genetics of congenital hypothyroidism

4. Discordance of Monozygotic Twins for Thyroid Dysgenesis: Implications for Screening and for Molecular Pathophysiology

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