Heterogeneity in phenotype of Usher-congenital hyperinsulinism syndrome: hearing loss, retinitis pigmentosa, and hyperinsulinemic hypoglycemia ranging from severe to mild with conversion to diabetes

OBJECTIVE--To evaluate the phenotype of 15 children with congenital hyperinsulinism (CHI) and profound hearing loss, known as Homozygous llp15-p14 Deletion syndrome (MIM #606528). RESEARCH DESIGN AND METHODS--Prospective clinical follow-up and [...]