A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome

Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. In this study, we...

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Detalles Bibliográficos
Autores principales: Jiang, Shujuan, Zhang, Jiubin, Huang, Dan, Zhang, Yuanyuan, Liu, Xiaoliang, Wang, Yinzhao, He, Rong, Zhao, Yanyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2014
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264161/
https://www.ncbi.nlm.nih.gov/pubmed/25380522
http://dx.doi.org/10.3390/ijms151120158

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264161/
https://www.ncbi.nlm.nih.gov/pubmed/25380522
http://dx.doi.org/10.3390/ijms151120158

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