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Article

[Oral-facial-digital syndrome type I. A case report].

Minerva stomatologica - 1 Apr 2004

Leonardi R, Gallone M, Sorge G, Greco F

Abstract excerpt

Oral-facial-digital syndrome type I (OFDI) is a congenital X-linked dominant disorder characterized by anomalies of the oral cavity, face and digits sometimes associated to cerebral malformations and polycystic kidney disease. The gene, responsible for this syndrome, is ofd1. Clinically it is see...

Topics

Child
Dentition, Permanent
Female
Genes, Dominant
Genetic Diseases, X-Linked
Humans
Incisor
Odontogenesis
Orofaciodigital Syndromes
Phenotype
Proteins
Tooth, Deciduous
Tooth, Supernumerary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 15107776

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-15107776-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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