Hereditary Multiple Intestinal Atresia With a Novel TTC7A Pathogenic Variant: Gastrointestinal Manifestations in Two Cases.

Hereditary multiple intestinal atresia (HMIA) with mutation is caused by homozygous or compound heterozygous gene mutation. It is characterized by multiple small and large intestinal atresias and/or stenoses. mutation is described in some patients with inflammatory bowel disease and mild-severe forms of severe combined immunodeficiency without intestinal atresia or stenosis.