Ontology highlight
ABSTRACT:
SUBMITTER: Sprecher E
PROVIDER: S-EPMC1224527 | biostudies-literature | 2005 Aug
REPOSITORIES: biostudies-literature
Sprecher Eli E Ishida-Yamamoto Akemi A Mizrahi-Koren Mordechai M Rapaport Debora D Goldsher Dorit D Indelman Margarita M Topaz Orit O Chefetz Ilana I Keren Hanni H O'brien Timothy J TJ Bercovich Dani D Shalev Stavit S Geiger Dan D Bergman Reuven R Horowitz Mia M Mandel Hanna H
American journal of human genetics 20050620 2
Neurocutaneous syndromes represent a vast, largely heterogeneous group of disorders characterized by neurological and dermatological manifestations, reflecting the common embryonic origin of epidermal and neural tissues. In the present report, we describe a novel neurocutaneous syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma (CEDNIK syndrome). Using homozygosity mapping in two large families, we localized the disease gene to 22q11.2 and identified, in all p ...[more]