Article
Mutations in the human TBX4 gene cause small patella syndrome.
American journal of human genetics - 1 Jun 2004
Bongers Ernie M H F, Duijf Pascal H G, van Beersum Sylvia E M, Schoots Jeroen, Van Kampen Albert, Burckhardt Andreas, Hamel Ben C J, Losan Frantisek, Hoefsloot Lies H, Yntema Helger G, Knoers Nine V A M, van Bokhoven Hans
Abstract excerpt
Small patella syndrome (SPS) is an autosomal-dominant skeletal dysplasia characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification of the ischia and inferior pubic rami. We identified an SPS critical region of 5.6 cM on chromosome 17q22 by haplotype analysis. Putative loss-of-function mutations were found in a positional gene encoding T-box protein 4...
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