A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism-Reference-Cited by-同舟云学术

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A new compound heterozygous for c.886C>T/c.2206C>T [p.R277X/p.Q717X] mutations in the thyroglobulin gene as a cause of foetal goitrous hypothyroidism

Published:2011-03-07 Issue:4 Volume:74 Page:533-535
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:

Author:

Citterio Cintia E.,Coutant Regis,Rouleau Stephanie,Miralles García José M.,Gonzalez-Sarmiento Rogelio,Rivolta Carina M.,Targovnik Héctor M.

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1365-2265.2010.03932.x/fullpdf

Reference5 articles.

1. Genetics and phenomics of hypothyroidism and goiter due to thyroglobulin mutations;Targovnik;Molecular and Cellular Endocrinology,2010

2. Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene;Targovnik;Clinical Endocrinology,2010

3. Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G>A[R2223H]) resulting in fetal goitrous hypothyroidism;Caron;Journal of Clinical Endocrinology and Metabolism,2003

4. Ultrasonography of the fetal thyroid: nomograms based on biparietal diameter and gestational age;Ranzini;Journal of Ultrasound in Medicine,2001

5. Experience with intraamniotic thyroxine treatment in nonimmune fetal goitrous hypothyroidism in 12 cases;Ribault;Journal of Clinical Endocrinology and Metabolism,2009

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1. Curating the gnomAD database: Report of novel variants in the thyrogobulin gene using in silico bioinformatics algorithms;Molecular and Cellular Endocrinology;2021-08

2. Structure and genetic variants of thyroglobulin: Pathophysiological implications;Molecular and Cellular Endocrinology;2021-05

3. A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis;Molecular and Cellular Endocrinology;2021-02

4. Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism;Molecular and Cellular Endocrinology;2018-09

5. Fetal Goitrous Hypothyroidism and Polyhydramnios in a Patient with Compound Heterozygous DUOXA2 Mutations;Hormone Research in Paediatrics;2018

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