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Article

Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment.

European journal of human genetics : EJHG - 1 Jun 2008

Knight Helen M, Maclean Alan, Irfan Muhammad, Naeem Farooq, Cass Stephen, Pickard Benjamin S, Muir Walter J, Blackwood Douglas H R, Ayub Muhammad

Abstract excerpt

Homozygosity mapping within consanguineous families is a powerful method of localising genes for autosomal recessive disease. We investigated a family from Punjab, Pakistan, a region where consanguineous marriages are frequent. The parents have no detectable clinical disorders. However, five out of six children present with schizophrenia, epilepsy or hearing impairment either alone or in combination. This unusual...

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Source

Identifiers

PMID: 18322454
DOI: 10.1038/ejhg.2008.11

Genes

ATF4
CACNG2
KCNF1

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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