Article
Braddock-Carey syndrome: A 21q22 contiguous gene syndrome encompassing RUNX1.
American journal of medical genetics. Part A - 1 Oct 2016
Braddock Stephen R, South Sarah T, Schiffman Joshua D, Longhurst Maria, Rowe Leslie R, Carey John C
Abstract excerpt
In 1994, Braddock and Carey first reported two unrelated girls with a new multiple malformation syndrome. The primary features included Pierre Robin sequence, persistent neonatal-onset thrombocytopenia, agenesis of the corpus callosum, a distinctive facies, enamel hypoplasia, and severe developmental delay. Since that time, there have been multiple other reported patients with a similar phenotype. In addition,...
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