Identification and Characterization of Mutations in the CLCN7 Gene in A Taiwanese Patient with Infantile Malignant Osteopetrosis

This study extended the spectrum of CLCN7 mutations and revealed that the p.Arg286Gln mutation, combined with a deletion mutation, caused a severe type of ARO. In addition, CLCN7 gene profiling may be useful in genetic counseling for families affected by ARO.
Source: Pediatrics and Neonatology - Category: Perinatology & Neonatology Source Type: research