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Article

Oral manifestations of patients with Kenny-Caffey Syndrome.

European journal of medical genetics - 1 Jan 2000

Moussaid Youssra, Griffiths Didier, Richard Béatrice, Dieux Anne, Lemerrer Martine, Léger Juliane, Lacombe Didier, Bailleul-Forestier Isabelle

Abstract excerpt

Kenny-Caffey syndrome (KCS) is a rare osteosclerotic bone dysplasia characterized by hypocalcemia, short stature, ophthalmological features, and teeth anomalies. The TBCE gene coding for a tubulin-specific chaperone E, is located at chromosome 1q42-q43, and is responsible for the recessive form. After reviewing the literature, we found around 60 cases, however with limited dental data. In this article 5 new...

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Source

Identifiers

PMID: 22522175
DOI: 10.1016/j.ejmg.2012.03.005

Genes

TBCE

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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