Fig. 1
From: Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome
Segregation analysis of the C8orf37 - stop gain variant p.Trp185* in a consanguineous family with BBS. The proband and affected sister carried the variant in the homozygous state, while the consanguineous parents and unaffected siblings carried the variant in the heterozygous state. Genotypes of the identified C8orf37 variant are indicated by ‘‘+’’ (mutated allele) and ‘‘-’’ (reference allele)