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

• Główni autorzy: Xiaoyi Yan (Autor), Jie Lin (Autor), Yifan Wang (Autor), Junli Xuan (Autor), Ping Yu (Autor), Tingwei Guo (Autor), Fan Jin (Autor)
• Format: Książka
• Wydane: BMC, 2019-05-01T00:00:00Z.
• Hasła przedmiotowe: article
• Dostęp online: Connect to this object online.

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...