GJA1 Mutations, Variants, and Connexin 43 Dysfunction as it Relates to the Oculodentodigital Dysplasia Phenotype
William A Paznekas, Barbara Karczeski, Sascha Vermeer, R Brian Lowry, Martin Delatycki, Faivre Laurence, Pasi A Koivisto, Lionel Van Maldergem, Simeon A Boyadjiev, Joann N Bodurtha, Ethylin Wang Jabs
Human Mutation | WILEY | Published : 2009
Awarded by NIH
Awarded by NATIONAL INSTITUTE OF DENTAL &CRANIOFACIAL RESEARCH
We thank the families for their participation in this research project and Garry Cutting, MD, Steven Steinberg PhD, and Sara Katsanis, MS, of the Johns Hopkins DNA Diagnostic Laboratory for sharing mutation data. This work was supported by NIH R01 DE13849 (to E.W.J.).