Cargando…
Extension of the mutation spectrum of PAX6 from three Chinese congenital aniridia families and identification of male gonadal mosaicism
BACKGROUND: Congenital aniridia is a severe autosomal dominant binocular developmental disorder, the primary feature of which is congenital absence or hypoplasia of the iris. PAX6 is the main disease‐causing gene of congenital aniridia; inheritance is autosomal dominant. But the current mutations do...
| Autores principales: | , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
|
| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305634/ https://www.ncbi.nlm.nih.gov/pubmed/30334364 http://dx.doi.org/10.1002/mgg3.481 |