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Article

Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.

American journal of medical genetics. Part A - 1 Feb 2004

des Portes Vincent, Boddaert Nathalie, Sacco Silvia, Briault Sylvain, Maincent Kim, Bahi Nadia, Gomot Marie, Ronce Nathalie, Bursztyn Joseph, Adamsbaum Catherine, Zilbovicius Monica, Chelly Jamel, Moraine Claude

Abstract excerpt

Oligophrenin-1 (OPHN-1) gene disruption is known as responsible for so called "non-specific" X-linked mental retardation (MR) Billuart et al. [1998: Nature 392:923-926]. In order to search for a possible specific clinical and radiological profile for mutation in the OPHN-1 gene, clinical and 3D b...

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PMID: 14735583
DOI: 10.1002/ajmg.a.20422

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14735583-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Specific clinical and brain MRI features in mentally retarded patients with mutations in the Oligophrenin-1 gene.PMID 14735583Read ↗

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