Guidelines for genetic study of aniridia.

Autores de IIS La Fe

• 

  José María Millán Salvador

  Autor

• Carmen Ayuso Garcia

  Autor

Participantes ajenos a IIS La Fe

• Blanco-Kelly F
• Villaverde-Montero C
• Lorda-Sánchez I
• Trujillo-Tiebas MJ

Grupos

• 

  Biomedicina Molecular, Celular y Genómica

Abstract

Aniridia is a panocular disorder which occurs in 1/50,000 to 1/100,000 live births and can appear either in isolated form or in the context of a syndrome. Isolated aniridia is inherited as an autosomal dominant condition and is caused by mutations of the PAX6 gene. A variety of techniques and methodologies within molecular genetics and cytogenetics are used to study these mutations.