Pseudodominant inheritance in a family with nonautoimmune hypothyroidism due to biallelicDUOX2mutations
Author:
Affiliation:
1. Department of Pediatrics; Keio University School of Medicine; Tokyo Japan
2. Division of Endocrinology and Metabolism; Aichi Childeren's Health and Medical Center; Aichi Japan
Funder
Grant-in Aid for youg Scientists (B)
Publisher
Wiley
Subject
Endocrinology, Diabetes and Metabolism,Endocrinology
Reference17 articles.
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2. Molecular basis of thyroid dyshormonogenesis: genetic screening in population-based Japanese patients;Narumi;Journal of Clinical Endocrinology and Metabolism,2011
3. Genetic causes of congenital hypothyroidism due to dyshormonogenesis;Grasberger;Current Opinion in Pediatrics,2011
4. Inactivating mutations in the gene for thyroid oxidase 2 (THOX2) and congenital hypothyroidism;Moreno;New England Journal of Medicine,2002
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1. Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing;Molecular Genetics & Genomic Medicine;2019-11-02
2. DUOX Defects and Their Roles in Congenital Hypothyroidism;Methods in Molecular Biology;2019
3. The genetic characteristics of congenital hypothyroidism in China by comprehensive screening of 21 candidate genes;European Journal of Endocrinology;2018-06
4. Disorders of H 2 O 2 generation;Best Practice & Research Clinical Endocrinology & Metabolism;2017-03
5. High prevalence of DUOX2 gene mutations among children with congenital hypothyroidism in central China;European Journal of Medical Genetics;2016-10
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