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Article

Variable expressivity of TCTEX1D2 mutations and a possible pathogenic link of molar-incisor malformation to ciliary dysfunction.

Archives of oral biology - 1 Aug 2017

Zschocke Johannes, Schossig Anna, Bosshardt Dieter D, Karall Daniela, Glueckert Rudolf, Kapferer-Seebacher Ines

Abstract excerpt

OBJECTIVE: Clarification of the molecular basis of a ciliopathy associated with molar-incisor malformation in a consanguineous Turkish family. DESIGN: Full dental and clinical examinations, histologic analysis, comprehensive genetic analyses including exome sequencing, ciliary function tests and transmission electron microscopy of ciliary biopsies in the surviving patient. RESULTS: Two siblings had situs inversus...

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Identifiers

PMID: 28475963
DOI: 10.1016/j.archoralbio.2017.04.009

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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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