Article
Heritability and De Novo Mutations in Oesophageal Atresia and Tracheoesophageal Fistula Aetiology.
Genes - 10 Oct 2021
Brosens Erwin, Brouwer Rutger W W, Douben Hannie, van Bever Yolande, Brooks Alice S, Wijnen Rene M H, van IJcken Wilfred F J, Tibboel Dick, Rottier Robbert J, de Klein Annelies
Abstract excerpt
Tracheoesophageal Fistula (TOF) is a congenital anomaly for which the cause is unknown in the majority of patients. OA/TOF is a variable feature in many (often mono-) genetic syndromes. Research using animal models targeting genes involved in candidate pathways often result in tracheoesophageal phenotypes. However, there is limited overlap in the genes implicated by animal models and those found in OA/TOF-related...
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