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Article

An orthopaedic scoring system for nail-patella syndrome and application to a kindred with variable expressivity and glaucoma.

Journal of pediatric orthopedics - 1 Jan 2000

Farley F A, Lichter P R, Downs C A, McIntosh I, Vollrath D, Richards J E

Abstract excerpt

To help determine whether there is a genetic basis to the substantial variability observed in nail-patella syndrome (NPS), we devised a scoring system that quantifies the severity of the orthopaedic characteristics in NPS. Use of this system to score affected members in three generations of a single kindred revealed wide variability of severity of orthopaedic findings both within and between generations. Genetic...

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Identifiers

PMID: 10488864

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NPS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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