Next-generation sequencing reveals a new mutation in the LTBP2 gene associated with microspherophakia in a Spanish family

• Main Authors: Laura Alías (Author), Jaume Crespi (Author), Lidia González-Quereda (Author), Jesús Téllez (Author), Elisabeth Martínez (Author), Sara Bernal (Author), Ma Pia Gallano (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Microspherophakia is a rare autosomal recessive eye disorder characterized by small spherical lens. It may present as an isolated finding or in association with other ocular and/or systemic disorders. This clinical and genetic heterogeneity requires the study of large genes (ADAM...