Disease: Familial intestinal polyatresia syndrome
- A Novel Homozygous <em>TTC7A</em> Missense Mutation Results in Familial Multiple Intestinal Atresia and Combined Immunodeficiency
- A rare occurrence of multiple intestinal atresias, with successful one-procedure resection and primary anastomosis
- Accuracy of antenatal ultrasound signs in predicting the risk for bowel atresia in patients with gastroschisis
- Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing
- Bialellic Mutations in Tetratricopeptide Repeat Domain 7A (TTC7A) Cause Common Variable Immunodeficiency-Like Phenotype with Enteropathy
- Compound heterozygous mutations in TTC7A cause familial multiple intestinal atresias and severe combined immunodeficiency
- Congenital intestinal atresias with multiple episodes of sepsis: A case report and review of literature
- Consecutive siblings, each with two separate small bowel atresias
- Familial intestinal polyatresia syndrome
- How can we improve perinatal care in isolated multiple intestinal atresia? A retrospective study with a 30-year literature review
- Missense mutation of TTC7A mimicking tricho-hepato-enteric (SD/THE) syndrome in a patient with very-early onset inflammatory bowel disease
- Multiple intestinal atresia with combined immune deficiency
- Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency
- Pediatric Gastrointestinal Histopathology in Patients With Tetratricopeptide Repeat Domain 7A (TTC7A) Germline Mutations: A Rare Condition Leading to Multiple Intestinal Atresias, Severe Combined Immunodeficiency, and Congenital Enteropathy
- Prominent Follicular Keratosis in Multiple Intestinal Atresia with Combined Immune Deficiency Caused by a TTC7A Homozygous Mutation
- Tetratricopeptide repeat domain 7A (TTC7A) mutation in a newborn with multiple intestinal atresia and combined immunodeficiency
- TTC7A, a critical effector for the intestinal and immune system homeostasis