Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism.

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Title: Genotype-phenotype correlation of biallelic DUOX2 mutations in transient and permanent congenital hypothyroidism.
Authors: Liang SB; Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan., Cheng CY; Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan., Chen YR; Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan., Chen YJ; Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan.; Department of Life Sciences and Institute of Genome Sciences, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan., Yang CF; Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan.; School of Medicine, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan., Lu YH; Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan., Niu DM; Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan.; Institute of Clinical Medicine, School of Medicine, National Yang Ming Chiao Tung University, Taipei 112304, Taiwan.; Institute of Molecular and Genomic Medicine, National Health Research Institutes, Miaoli 35053, Taiwan.
Source: Journal of the Endocrine Society [J Endocr Soc] 2026 Apr 13; Vol. 10 (6), pp. bvag081. Date of Electronic Publication: 2026 Apr 13 (Print Publication: 2026).
Publication Type: Journal Article
Journal Info: Publisher: Endocrine Society Country of Publication: United States NLM ID: 101697997 Publication Model: eCollection Cited Medium: Internet ISSN: 2472-1972 (Electronic) Linking ISSN: 24721972 NLM ISO Abbreviation: J Endocr Soc Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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ISSN:2472-1972
DOI:10.1210/jendso/bvag081