More than keratitis, ichthyosis, and deafness: multisystem effects of lethal GJB2 mutations

Infant death in KID syndrome is recognized; its association with specific genotypes and pathophysiology is inadequately understood.

Source: Journal of the American Academy of Dermatology - October 1, 2018 Category: Dermatology Authors: Evelyn Lilly, Christopher G. Bunick, Alexander M. Maley, Shali Zhang, Mary K. Spraker, Amy J. Theos, Karina L. Vivar, Lucia Seminario-Vidal, Adam E. Bennett, Robert Sidbury, Yasushi Ogawa, Masashi Akiyama, Barbara Binder, Smail Hadj-Rabia, Raffaella A. Mo Source Type: research