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Article

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

European journal of human genetics : EJHG - 1 Nov 2000

Cusano R, Gangarossa S, Forabosco P, Caridi G, Ghiggeri G M, Russo G, Iolascon A, Ravazzolo R, Seri M

Abstract excerpt

Fechtner syndrome is an autosomal dominant disorder which has been thought to be a variant of Alport syndrome. It is characterised by nephritis, sensorineural hearing loss and eye abnormalities, as well as by macrothrombocytopenia and polymorphonuclear inclusion bodies. Recently, the Fechtner syndrome has been mapped in a 5.5 Mb region on the long arm of chromosome 22 by linkage analysis in an extended Israeli...

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Identifiers

PMID: 11093280
DOI: 10.1038/sj.ejhg.5200533

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.PMID 11093280Read ↗

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