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Article

Increased Prevalence of TG and TPO Mutations in Sudanese Children With Congenital Hypothyroidism.

The Journal of clinical endocrinology and metabolism - 1 May 2020

Bruellman Ryan J, Watanabe Yui, Ebrhim Reham S, Creech Matthew K, Abdullah Mohamed A, Dumitrescu Alexandra M, Refetoff Samuel, Weiss Roy E

Abstract excerpt

CONTEXT: Congenital hypothyroidism (CH) is due to dyshormonogenesis in 10% to 15% of subjects worldwide but accounts for 60% of CH cases in the Sudan. OBJECTIVE: To investigate the molecular basis of CH in Sudanese families. DESIGN: Clinical phenotype reporting and serum thyroid hormone measurements. Deoxyribonucelic acid extraction for whole-exome sequencing and Sanger sequencing. SETTING: University research...

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Identifiers

PMID: 31867598
DOI: 10.1210/clinem/dgz297
PMCID: PMC7093074

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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