Publications
] Filters: Author is Shears, Debbie [Clear All Filters]
"A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A." Am. J. Med. Genet. A. 2014. Abstract
Dare to dream, courage to adapt, wisdom to rejoice
Notice: This site is no longer being actively maintained. While much of the information is still relevant, some of it has become out-of-date.
There are several Facebook groups. Just search "Kabuki syndrome" from within Facebook.
For a current site see one of the following:
http://allthingskabuki.org
https://www.kabukisyndromefoundation.org