Alagille syndrome due to a de novo NOTCH2 mutation presenting as prenatal oligohydramnios and congenital bilateral renal hypodysplasia: A case report

• المؤلفون الرئيسيون: Fengdan Xu (مؤلف), Qi Peng (مؤلف), Xiaoguang He (مؤلف), Xiaolan Chen (مؤلف), Shuanglan Jiang (مؤلف), Xiaomei Lu (مؤلف), Ning Li (مؤلف)
• التنسيق: كتاب
• منشور في: Frontiers Media S.A., 2022-11-01T00:00:00Z.
• الموضوعات: article
• الوصول للمادة أونلاين: Connect to this object online.

IntroductionHere, we report the case of an infant suffering from Alagille syndrome (ALGS), manifesting with the atypical clinical manifestations of prenatal oligohydramnios and renal lesions. To the best of our knowledge, this is the first case of ALGS presenting as prenatal oligohydramnios and rena...