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Article

A whole-genome scan in a large family with leukodystrophy and oligodontia reveals linkage to 10q22.

Neurogenetics - 1 Feb 2011

Chouery Eliane, Delague Valérie, Jalkh Nadine, Salem Nabiha, Kfoury Jessy, Rodriguez Diana, Chabrol Brigitte, Boespflug-Tanguy Odile, Lévy Nicolas, Serre Jean Louis, Mégarbané André

Abstract excerpt

Dentoleukoencephalopathies with autosomal recessive inheritance are very rare. Recently, a large inbred Syrian pedigree was reported with oligodontia in association with a degenerative neurologic condition characterized by progressive ataxia and pyramidal syndrome and abnormalities in the white matter and cortical atrophy. A whole-genome screening of this family using 382 microsatellite markers was completed, but...

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Source

Identifiers

PMID: 20721593
DOI: 10.1007/s10048-010-0256-3

Genes

NPL
PSAP

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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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