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Article

Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.

Annals of human genetics - 1 Sept 2011

Khalfallah Ayda, Schrauwen Isabelle, Mnejja Malek, HadjKacem Hassen, Dhouib Leila, Mosrati Mohamed Ali, Hakim Bochra, Lahmar Imed, Charfeddine Ilhem, Driss Nabil, Ayadi Hammadi, Ghorbel Abdelmonem, Van Camp Guy, Masmoudi Saber

Abstract excerpt

Otosclerosis is a condition characterized by an abnormal bone metabolism in the otic capsule, resulting in conductive and/or sensorineural hearing loss. Otosclerosis is a common disorder in which genes play an important role. Case-control association studies have implicated several genes in the abnormal bone metabolism associated with otosclerosis: COL1A1, TGFB1, BMP2, and BMP4. To investigate the association of...

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Source

Identifiers

PMID: 21777208
DOI: 10.1111/j.1469-1809.2011.00665.x

Genes

TGFB1
BMP4
BMP2

Provenance

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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Association of COL1A1 and TGFB1 polymorphisms with otosclerosis in a Tunisian population.PMID 21777208Read ↗

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