Article
Etiology and functional validation of gastrointestinal motility dysfunction in a zebrafish model of CHARGE syndrome.
The FEBS journal - 1 Jun 2018
Cloney Kellie, Steele Shelby L, Stoyek Matthew R, Croll Roger P, Smith Frank M, Prykhozhij Sergey V, Brown Mary M, Midgen Craig, Blake Kim, Berman Jason N
Abstract excerpt
CHARGE syndrome is linked to autosomal-dominant mutations in the CHD7 gene and results in a number of physiological and structural abnormalities, including heart defects, hearing and vision loss, and gastrointestinal (GI) problems. Of these challenges, GI problems have a profound impact throughout an individual's life, resulting in increased morbidity and mortality. A homolog of CHD7 has been identified in the...
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