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Article

Expanding the neurologic phenotype of oculodentodigital dysplasia in a 4-generation Hispanic family.

Journal of child neurology - 1 Aug 2008

Amador Claudia, Mathews Anne M, Del Carmen Montoya Maria, Laughridge Mary E, Everman David B, Holden Kenton R

Abstract excerpt

We report a 4-generation Hispanic family with oculodentodigital dysplasia whose members were found to have typical phenotypic characteristics of this disorder, as well as a variable expression of neurologic manifestations in multiple generations ranging from a mild spastic gait to moderate to severe spastic tetraparesis/quadriplegia with epilepsy and an abnormal brain and spinal cord magnetic resonance imaging...

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Source

Identifiers

PMID: 18660473
DOI: 10.1177/0883073808317730

Genes

GJA1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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