Article
Low-level mesodermal somatic mutation mosaicism: late-onset craniofacial and cervical spinal hyperostoses.
American journal of medical genetics. Part A - 1 Mar 2014
Kubota Yoshitaka, Mitsukawa Nobuyuki, Uchida Michiko, Uchida Yuuki, Akita Shinsuke, Hasegawa Masakazu, Satoh Kaneshige
Abstract excerpt
Craniofacial and cervical spinal hyperostoses are rarely seen in the absence of other abnormalities. Only seven patients with isolated cranial hyperostoses have been reported, and only a single patient with both calvarial and cervical vertebral hyperostoses. We report on an adult with late-onset right-sided asymmetrical hyperostoses of the cranium, mandible, and cervical vertebrae in the absence of an AKT1...
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