Segregation of a novel p.(Ser270Tyr) MAF mutation and p.(Tyr56*) CRYGD variant in a family with dominantly inherited congenital cataracts
2017
Abstrakt
Our study highlights that patients with genetically heterogenous conditios may exhibit rare variants in more that one disease-asssociated gene, warranting caution with data interpretation,and supporting parallel screening of all genes known to harbour pathogenic mutations for a given phenotype.