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Article

Detection of combined genomic variants in a Jordanian family with familial non-autoimmune hyperthyroidism.

Journal of genetics - 1 Aug 2009

Ismail Said I, Mahmoud Ismail S, Al-Ardah Mahmoud, Abdelnour Amid, Younes Nidal A

Abstract excerpt

Five patients, four brothers and their paternal aunt, presented with a history of overt hyperthyroidism and goiter. Hyperthyroidism in this family was remarkable for its poor response to carbimazole (30-50 mg/d). The thyroid ultrasound showed a diffusely enlarged gland in all the affected members, and thyroid stimulating antibodies (TSAB) were negative. Screening for germline mutations in thyroid stimulating...

Topics

Adolescent
Adult
Autoimmune Diseases
Female
Genomics
Germ-Line Mutation
Humans
Hyperthyroidism
Introns
Jordan
Male
Pedigree

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Polymorphism, Single Nucleotide

Receptors, Thyrotropin

Source

Identifiers

PMID: 19700862
DOI: 10.1007/s12041-009-0032-z

Genes

TSHR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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