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Article

An autosomal recessive leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa maps to chromosome 17q24.2-25.3.

BMC medical genetics - 21 Mar 2012

Bouhouche Ahmed, Benomar Ali, Errguig Leila, Lachhab Lamiae, Bouslam Naima, Aasfara Jehanne, Sefiani Sanaa, Chabraoui Layachi, El Fahime Elmostafa, El Quessar Abdeljalil, Jiddane Mohamed, Yahyaoui Mohamed

Abstract excerpt

BACKGROUND: Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in...

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Source

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Identifiers

PMID: 22436252
DOI: 10.1186/1471-2350-13-18
PMCID: PMC3344692

Genes

FDXR
CYGB
KCNJ16

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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