Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13

The association of congenital corneal dystrophy with teenage onset perceptive hearing loss (Harboyan syndrome) has been reported in two sibships, one with consanguineous parents, which were consistent with autosomal recessive transmission. We have observed a Moroccan sibship where four girls and one...

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Veröffentlicht in:	Journal of medical genetics 2002-02, Vol.39 (2), p.110-112
Hauptverfasser:	Abramowicz, M J, Albuquerque-Silva, J, Zanen, A
Format:	Artikel
Sprache:	eng
Schlagworte:	20p13 Adult Audiometry Biological and medical sciences CDPD CDPD, corneal dystrophy and perceptive deafness CHED CHED, congenital hereditary endothelial dystrophy Chromosome 20 Chromosome Mapping - methods Chromosomes Congenital diseases congenital hereditary endothelial dystrophy Cornea Corneal Dystrophies, Hereditary - genetics Corneal dystrophy corneal dystrophy and perceptive deafness Corneal transplantation Deafness Deafness - genetics Deoxyribonucleic acid Diseases of cornea, anterior segment and sclera DNA Edema Endothelium Female Gene mapping Genes Genetic Linkage - genetics Genetic markers Genotype & phenotype Harboyan syndrome Hearing loss Hearing protection Humans Male Medical sciences Microsatellites Nuclear Family Ophthalmology Parents & parenting perceptive deafness Short Report Short reports Syndrome Ultrasonic imaging
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