Novel ZBTB24 Mutation Associated with Immunodeficiency, Centromere Instability, and Facial Anomalies Type-2 Syndrome Identified in a Patient with Very Early Onset Inflammatory Bowel Disease

Inflammatory Bowel Diseases - Tập 23 Số 12 - Trang 2252-2255 - 2017
Máire A. Conrad1,2, Noor Dawany3, Kathleen E. Sullivan4,2, Marcella Devoto5,6,7,2, Judith R. Kelsen1,2
1*Department of Pediatrics, Division of Gastroenterology, Hepatology, and Nutrition, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
2Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania
3‡Department of Biomedical Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
4Department of Pediatrics, Division of Allergy and Immunology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania
5Department of Molecular Medicine, University of Rome “Sapienza”, Rome, Italy
6Department of Biostatistics and Epidemiology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania
7‖Department of Pediatrics, Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania

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Tài liệu tham khảo

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Thông tin xuất bản

Inflammatory Bowel Diseases

Tập 23 Số 12

2252-2255

Thông tin tác giả