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The nail-patella syndrome:Clinical and genetic aspects of 5 kindreds with 38 affected family members

Authors
Journal
The Journal of Pediatrics
0022-3476
Publisher
Elsevier
Publication Date
Volume
68
Issue
2
Identifiers
DOI: 10.1016/s0022-3476(66)80159-2

Abstract

The nail-patella syndrome is a pleiotropic malformation syndrome affecting the nails,the skeleton, and occasionally the central nervous system and the kidneys. Thirty-eight cases from five kindreds illustrate this syndrome, its autosomal dominant inheritance and pleiotropic manifestations, as well as an occasional new mutation. The condition is linked with the ABO blood group locus and it appears to be modified by at least three different alleles.

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