Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism-Reference-Cited by-同舟云学术

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Novel DIO1 Gene Mutation Acting as Phenotype Modifier for Novel Compound Heterozygous TPO Gene Mutations Causing Congenital Hypothyroidism

Published:2021-07-16 Issue: Volume: Page:
ISSN:1050-7256
Container-title:Thyroid
language:en
Short-container-title:Thyroid

Author:

Furman Aryel¹,Hannoush Zeina¹,Barrera Echegoyen Francisco¹,Dumitrescu Alexandra²^ORCID,Refetoff Samuel²³⁴^ORCID,Weiss Roy E.¹^ORCID

Affiliation:

1. Department of Medicine; University of Miami Miller School of Medicine, Miami, Florida, USA.

2. Department of Medicine, University of Chicago, Chicago, Illinois, USA.

3. Department of Genetics and University of Chicago, Chicago, Illinois, USA.

4. Department of Pediatrics, University of Chicago, Chicago, Illinois, USA.

Publisher

Mary Ann Liebert Inc

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism

Link

https://www.liebertpub.com/doi/pdf/10.1089/thy.2021.0210

Reference4 articles.

1. Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism

2. Distinct Roles of Deiodinases on the Phenotype of Mct8 Defect: A Comparison of Eight Different Mouse Genotypes

3. Two Different Mutations in the Thyroid Peroxidase Gene of a Large Inbred Amish Kindred: Power and Limits of Homozygosity Mapping

4. Targeted Next-Generation Sequencing for Congenital Hypothyroidism With Positive Neonatal TSH Screening

Cited by 4 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. Approach to the Patient With Raised Thyroid Hormones and Nonsuppressed TSH;The Journal of Clinical Endocrinology & Metabolism;2023-11-21

2. Effect of levothyroxine sodium on preterm infants with hypothyroidism;TROP J PHARM RES;2023

3. Pathogenic variations inMAML2andMAMLD1contribute to congenital hypothyroidism due to dyshormonogenesis by regulating the Notch signalling pathway;Journal of Medical Genetics;2023-03-10

4. Genetic disorders of thyroid development, hormone biosynthesis and signalling;Clinical Endocrinology;2022-09-05

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