Novel Exonic Deletions in TTC7A in a Newborn with Multiple Intestinal Atresia and Combined Immunodeficiency

J Clin Immunol. 2019 Aug;39(6):616-619. doi: 10.1007/s10875-019-00669-6. Epub 2019 Jul 24.

¹ Department of Pathology and Laboratory Medicine, The University of British Columbia, 10125-2775 Laurel St., Vancouver, BC, V5Z 1M9, Canada.
² Department of Medical Genetics, British Columbia Children's and Women's Hospital, The University of British Columbia, 4480 Oak St., Vancouver, BC, V6H 3N1, Canada.
³ Department of Pediatrics, British Columbia Children's Hospital, The University of British Columbia, 4480 Oak St., Vancouver, BC, V6H3Na, Canada.
⁴ SickKids Inflammatory Bowel Disease Center and Cell Biology Program Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, ON, M5G 1X8, Canada.
⁵ Department of Pathology and Laboratory Medicine, British Columbia Children's and Women's Hospital, The University of British Columbia, 4480 Oak St, Vancouver, BC, V6H3N1, Canada.
⁶ Departments of Pediatrics, Institute of Medical Science and Biochemistry, The University of Toronto, Toronto, ON, Canada.
⁷ Department of Pathology and Laboratory Medicine, British Columbia Children's and Women's Hospital, The University of British Columbia, 4480 Oak St, Vancouver, BC, V6H3N1, Canada. [email protected].

No abstract available

Keywords: Multiple intestinal atresia; TTC7A; VEOIBD; combined immunodeficiency.

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