Ardalan-Shoja-Kiuru syndrome - Hereditary gelsolin amyloidosis plus retinitis pigmentosa

Nephrology Dialysis Transplantation

Volumn 23, Issue 3, 2008, Pages 1071-

  Shokouhi, Ghaffar ^a   Khosroshahi, Hamid T ^a  

^a TABRIZ UNIVERSITY OF MEDICAL SCIENCES   (Iran)

Author keywords

[No Author keywords available]

Indexed keywords

GELSOLIN;

AMYLOIDOSIS; ARDALAN SHOJA KIURU SYNDROME; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 9Q; CORNEA DYSTROPHY; CUTIS LAXA; FAMILY STUDY; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENETIC DISORDER; HEREDITARY GELSOLIN AMYLOIDOSIS AND RETINITIS PIGMENTOSA; HUMAN; IRAN; IRELAND; LETTER; NEUROPATHY; PERCEPTION DEAFNESS; PRIORITY JOURNAL; RARE DISEASE; RETINITIS PIGMENTOSA; SYNDROME; CONGENITAL CORNEA DYSTROPHY; FAMILIAL AMYLOIDOSIS; GENETICS; MUTATION; NOTE;

AMYLOIDOSIS, FAMILIAL; CORNEAL DYSTROPHIES, HEREDITARY; CUTIS LAXA; GELSOLIN; HUMANS; MUTATION; RETINITIS PIGMENTOSA; SYNDROME;

EID: 42449140725     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfm577     Document Type: Letter

References (2)

1. Ardalan MR, Shoja MM, Kiuru-Enari S. Amyloidosis-related nephrotic syndrome due to a G654A gelsolin mutation: the first report from the Middle East. Nephrol Dial Transplant 2007; 22: 272-275
2. Kenna P, Mansergh F, Millington-Ward S et al. Clinical and molecular genetic characterisation of a family segregating autosomal dominant retinitis pigmentosa and sensorineural deafness. Br J Ophthalmol 1997; 81: 207-213