New York – The mutations responsible for a rare developmental disorder known as Ayme-Gripp syndrome, formerly known as Fine-Lubinsky syndrome, have been identified. The study, conducted by researchers at the Children’s Hospital Bambin Gesù and the National Institute of Health , was published in The American Journal of Human Genetics. The paper reveals the discovery of a new class of mutations in the MAF gene, previously associated with rare cases of isolated congenital cataract. The research also allowed to redefine the clinical picture of the disease, so far still unknown. (9colonne)
