A novel 11p13 microdeletion encompassing PAX6 in a Chinese Han family with aniridia, ptosis and mental retardation

PURPOSE: To explore possible genetic aberrations in a Chinese family with aniridia, ptosis and mental retardation, and provide genetic evidence for the prenatal diagnosis. METHODS: 14 exons of PAX6 in the proband were sequenced by the Sanger sequencing technique. Multiplex ligation-dependent probe a...

Descripción completa

Detalles Bibliográficos
Autores principales: Hu, Ping, Meng, Lulu, Ma, Dingyuan, Qiao, Fengchang, Wang, Yan, Zhou, Jing, Yi, Long, Xu, Zhengfeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307215/
https://www.ncbi.nlm.nih.gov/pubmed/25628759
http://dx.doi.org/10.1186/s13039-015-0110-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4307215/
https://www.ncbi.nlm.nih.gov/pubmed/25628759
http://dx.doi.org/10.1186/s13039-015-0110-2

Ejemplares similares