A New Mutation in the Promoter Region of the PAX8 Gene Causes True Congenital Hypothyroidism with Thyroid Hypoplasia in a Girl with Down's Syndrome-Reference-Cited by-同舟云学术

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A New Mutation in the Promoter Region of the PAX8 Gene Causes True Congenital Hypothyroidism with Thyroid Hypoplasia in a Girl with Down's Syndrome

Published:2014-06 Issue:6 Volume:24 Page:939-944
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Hermanns Pia¹,Shepherd Scott²,Mansor Mohamed³,Schulga John³,Jones Jez²,Donaldson Malcolm²,Pohlenz Joachim¹

Affiliation:

1. Department of Pediatrics, Johannes Gutenberg University Medical School, Mainz, Germany.

2. Section of Child Health, School of Medicine, Royal Hospital for Sick Children, Glasgow, Scotland.

3. Department of Paediatrics, Forth Valley Royal Hospital, Larbert, Scotland.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2013.0248

Reference26 articles.

1. Thyroid Development and Its Disorders: Genetics and Molecular Mechanisms

2. Clinical and Molecular Analysis of Thyroid Hypoplasia: A Population-Based Approach in Southern Brazil

3. Developmental Abnormalities of the Thyroid

4. Familial PAX8 Small Deletion (c.989_992delACCC) Associated with Extreme Phenotype Variability

5. Thyroid Dysgenesis: Multigenic or Epigenetic … or Both?

Cited by 12 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. Meta-Analysis of DNA Methylation Datasets Shows Aberrant DNA Methylation of Thyroid Development or Function Genes in Down Syndrome;Thyroid;2023-01-01

2. PAX8 in the Junction between Development and Tumorigenesis;International Journal of Molecular Sciences;2022-07-03

3. Morphological and Functional Assessment of Thyroid in Individuals with Down Syndrome;2021-05-17

4. Determination of thyroid volume in infants with suspected congenital hypothyroidism—the limitations of both subjective and objective evaluation;BJR|Open;2020-11

5. The Thyroid Gland;Brook's Clinical Pediatric Endocrinology;2019-08-30

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