This website provides information on patients with mutations in the COX7B gene (alias: Cytochrome C Oxidase Subunit 7(VII)b, COXVIIb), including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the COX7B gene is a multisystem disorder characterized by linear skin defects with multiple congenital anomalies.

Not all individuals with a mutation in the COX7B gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the COX7B gene.

Brunella Franco, MD, Telethon Institute of Genetics and Medicine and Federico II University of Naples, Pozzuoli (Naples) Italy, franco@tigem.it

Alessia Indrieri, PhD, Telethon Institute of Genetics and Medicine and Institute for Genetic and Biomedical Research, National Research Council, Pozzuoli (Naples) Italy, indrieri@tigem.it