Article
Nonsense mutation in the novel PERCC1 gene as a genetic cause of congenital diarrhea and enteropathy.
Human genetics - 1 May 2023
Marek-Yagel Dina, Stenke Emily, Pode-Shakked Ben, Dunne Cara, Crushell Ellen, Bryce-Smith Anthea, McDermott Michael, O'Sullivan Maureen J, Veber Alvit, Krishnamurthy Mansa, Wells James M, Anikster Yair, Bourke Billy
Abstract excerpt
Congenital diarrheas and enteropathies (CODEs) constitute a heterogeneous group of individually rare disorders manifesting with infantile-onset chronic diarrhea. Genomic deletions in chromosome 16, encompassing a sequence termed the 'intestine-critical region (ICR)', were recently identified as the cause of an autosomal recessive congenital enteropathy. The regulatory sequence within the ICR is flanked by an...
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