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Abstract

April-June 2017 | Vol. 10 | Issue 2 | Page No 3-4
Nail Patella Syndrome: A Case Report and Review of Literature
Vishal Gupta 1, Vinod Kumar 1, Smrithi Salian 1, Hitesh Shah 2 and Girisha KM 1*
1Department of Medical Genetics, Kasturba Medical College, Manipal, India 2Department of Orthopedics, Kasturba Medical College, Manipal, India
Address for Correspondence Email: girish.katta@manipal.edu
 
Abstract
Nail patella syndrome is a rare autosomal dominant disorder characterized by nail dysplasia, absent or hypoplastic patella, abnormality of the elbows and presence of iliac horns. Here, we report a case of a one-and-half-year-old girl with nail patella syndrome. Mutation analysis of the patient revealed a known de novo pathogenic variant, c.668G>A (p.R223Q) in exon 4 of the LMX1B gene.
 
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