A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome

A novel small deletion of LMX1B in a large Chinese family with nail-patella syndrome

Abstract Background Nail-patella syndrome (NPS) is an autosomal dominant developmental disorder most commonly characterized by dyplasia of nail or patella, the radial head or the humeral head hypoplasia, and, frequently ocular abnormalities and renal disease. It is caused by heterozygous loss-of-fun...

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Bibliographic Details
Main Authors: Xiaoyi Yan, Jie Lin, Yifan Wang, Junli Xuan, Ping Yu, Tingwei Guo, Fan Jin
Format: Article
Language:English
Published: BMC 2019-05-01
Series:BMC Medical Genetics
Subjects:
Bioinformatic analysis
LIM homeobox transcription factor 1-beta (LMX1B)
Mutation
Nail–patella syndrome
Sanger sequencing
Online Access:http://link.springer.com/article/10.1186/s12881-019-0801-3

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http://link.springer.com/article/10.1186/s12881-019-0801-3

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