A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals-Reference-Cited by-同舟云学术

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A Novel Mutation (S54C) of the PAX8 Gene in a Family with Congenital Hypothyroidism and a High Proportion of Affected Individuals

Published:2016 Issue:2 Volume:86 Page:137-142
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Srichomkwun Panudda,Admoni Osnat,Refetoff Samuel,de Vries Liat

Publisher

S. Karger AG

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health

Cited by 13 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. Incidentally Diagnosed Thyroid Hemiagenesis with Papillary Thyroid Carcinoma: A Case Report and Literature Review;Indian Journal of Endocrine Surgery and Research;2024-01-12

2. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8;CLIN PEDIATR ENDOCRI;2023

3. A case of syndromic congenital hypothyroidism with a 15.2 Mb interstitial deletion on 2q12.3q14.2 involving PAX8;Clinical Pediatric Endocrinology;2023

4. A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation;CLIN PEDIATR ENDOCRI;2022

5. Functional analysis of PAX8 variants identified in patients with congenital hypothyroidism in situ;CLIN PEDIATR ENDOCRI;2022

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