Article
Mutations in CD96, a member of the immunoglobulin superfamily, cause a form of the C (Opitz trigonocephaly) syndrome.
American journal of human genetics - 1 Oct 2007
Kaname Tadashi, Yanagi Kumiko, Chinen Yasutsugu, Makita Yoshio, Okamoto Nobuhiko, Maehara Hiroki, Owan Ichiro, Kanaya Fuminori, Kubota Yoshiaki, Oike Yuichi, Yamamoto Toshiyuki, Kurosawa Kenji, Fukushima Yoshimitsu, Bohring Axel, Opitz John M, Yoshiura Ko-Ichiro, Niikawa Norio, Naritomi Kenji
Abstract excerpt
The C syndrome is characterized by trigonocephaly and associated anomalies, such as unusual facies, psychomotor retardation, redundant skin, joint and limb abnormalities, and visceral anomalies. In an individual with the C syndrome who harbors a balanced chromosomal translocation, t(3;18)(q13.13;q12.1), we discovered that the TACTILE gene for CD96, a member of the immunoglobulin superfamily, was disrupted at the...
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