Variable Clinical Phenotypes in a Family with Homozygous c.1159G>A Mutation in the Thyroid Peroxidase<b> </b>Gene-Reference-Cited by-同舟云学术

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Variable Clinical Phenotypes in a Family with Homozygous c.1159G>A Mutation in the Thyroid Peroxidase Gene

Published:2014 Issue:5 Volume:81 Page:356-360
ISSN:1663-2818
Container-title:Hormone Research in Paediatrics
language:en
Short-container-title:Horm Res Paediatr

Author:

Lee Ching Chin,Harun Fatimah,Jalaludin Muhammad Yazid,Heh Choon Han,Othman Rozana,Kang In Nee,Mat Junit Sarni

Publisher

S. Karger AG

Subject

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

Cited by 7 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. Curating the gnomAD database: Report of novel variants in the thyroid peroxidase gene using in silico bioinformatics algorithms and a literature review;Molecular and Cellular Endocrinology;2022-12

2. Curating the GnomAD Database: Report of Novel Variants in the Thyroid Peroxidase Gene Using In Silico Bioinformatics Algorithms and a Literature Review;SSRN Electronic Journal;2022

3. Molecular insights into the role of genetic determinants of congenital hypothyroidism;Genomics & Informatics;2021-09-30

4. Fetal and Postnatal Disorders of Thyroid Function;Maternal-Fetal and Neonatal Endocrinology;2020

5. Mild thyroid peroxidase deficiency caused by TPO mutations with residual activity: Correlation between clinical phenotypes and enzymatic activity;Endocrine Journal;2017

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