Browsing by author "Tatton Brown, Katrina"
Now showing items 1-2 of 2
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Pneumothorax from Subpleural Blebs-A New Association of Sotos Syndrome?
(2014-05)We describe two unrelated patients with molecularly confirmed Sotos syndrome with multiple subpleural blebs and pneumothorax. We propose this as a new association. Patient 1 is a 3-year-old boy with a 1.9Mb interstitial ... -
Weaver Syndrome and EZH2 Mutations: Clarifying the Clinical Phenotype
(2013-12)Weaver syndrome, first described in 1974, is characterized by tall stature, a typical facial appearance, and variable intellectual disability. In 2011, mutations in the histone methyltransferase, EZH2, were shown to cause ...