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Article

Deep neurological phenotyping in oculo-dento-digital syndrome.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2024

Lopriore P, Vista M, Maritato P, Caldarazzo Ienco E, Bassani L, Natale G, Tessa A, Santorelli F M, Orsucci D

Abstract excerpt

OBJECTIVES: Oculodentodigital dysplasia (ODDD) is a rare autosomal dominant congenital malformation syndrome characterized by high penetrance and great phenotypic heterogeneity. Neurological manifestations are thought to occur in about one third of cases, but systematic studies are not available. We performed deep neurological phenotyping of 10 patients in one ODDD pedigree. METHODS: Retrospective case series. We...

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Source

Identifiers

PMID: 38253744
DOI: 10.1007/s10072-024-07331-z

Genes

GJA1

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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