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

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-function mu...

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Detalles Bibliográficos
Autores principales: Yan, Xiaoyi, Lin, Jie, Wang, Yifan, Xuan, Junli, Yu, Ping, Guo, Tingwei, Jin, Fan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499979/
https://www.ncbi.nlm.nih.gov/pubmed/31053111
http://dx.doi.org/10.1186/s12881-019-0801-3

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6499979/
https://www.ncbi.nlm.nih.gov/pubmed/31053111
http://dx.doi.org/10.1186/s12881-019-0801-3

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