Results 151 to 160 of about 3,403 (173)
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Nail-patella syndrome.

Clinical nephrology, 1980
Three cases with collagenation of glomerular basement membrane are presented. The ages of the patients are 8, 13, and 27 years. An 8-year-old boy presented with nephrotic syndrome; a 13-year-old girl presented with recurrent urinary tract infections, proteinuria, and edema; and a 27-year-old woman was noted during the evaluation of a cardiac murmur to ...
S G, Sabnis   +5 more
openaire   +1 more source

[Nail-patella syndrome].

Der Hautarzt; Zeitschrift fur Dermatologie, Venerologie, und verwandte Gebiete, 1997
The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy. The genetic defect is localized on chromosome 9q34.1. The clinical features in affected individuals vary greatly.
T, Wildfeuer, G, Albrecht
openaire   +3 more sources

Nail-Patella Syndrome

Archives of Internal Medicine, 1973
The nail-patella syndrome is considered to be an autosomal dominant hereditary disease. 1 It is manifested by a variety of bone and other abnormalities, such as absence or hypoplasia of the patellae, hemidysplasia of certain nails, particularly of the thumb, subluxation of the radial heads at the elbow joints, iliac horns, thickening of the scapulae ...
openaire   +1 more source

Mutation Analysis of LMX1B Gene in Nail-Patella Syndrome Patients

American Journal of Human Genetics, 1998
Iain Mcintosh   +2 more
exaly  

Familial bilateral antecubital pterygia with severe renal involvement in nail‐patella syndrome

Clinical Genetics, 1993
Renata Rizzo   +2 more
exaly  

THE NAIL‐PATELLA SYNDROME

Medical Journal of Australia, 1970
openaire   +1 more source

Nail‐patella syndrome—renal and musculo‐skeletal features

Nephrology Dialysis Transplantation, 2002
Nitin V Kolhe, John Stoves, Eric J Will
exaly  

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