Katina N Patterson1, Margaret M Reynolds1, Gregg T Lueder1

  • 1Washington University in St. Louis, Department of Ophthalmology and Visual Sciences, Washington University School of Medicine in St. Louis, St. Louis, MO, 63110, USA.

概括

这项研究详细介绍了一名患有非典型超时虹膜和视网膜结肠瘤以及相关系统性问题的婴儿. 负遗传测序强调需要进一步研究罕见的结肠瘤原因.