Department of Anatomy and Developmental Biology, Kyoto University Graduate School of Medicine, Japan.
Am J Med Genet C Semin Med Genet. 2010 Feb 15;154C(1):22-8. doi: 10.1002/ajmg.c.30248.
Holoprosencephaly (HPE) is one of the most common malformations encountered in early human embryos. It is assumed that more than 90% of HPE embryos die in utero and are eliminated by spontaneous abortion. Embryonic HPE displays some characteristic craniofacial phenotypes, which are not necessarily comparable to those in postnatal HPE cases. In this article, we summarize our studies on HPE in human embryos and discuss the pathogenesis of HPE malformations.
无脑回畸形（HPE）是人类早期胚胎中最常见的畸形之一。据推测，超过 90%的 HPE 胚胎在子宫内死亡，并通过自然流产消除。胚胎 HPE 表现出一些特征性的颅面表型，这些表型不一定与产后 HPE 病例的表型相媲美。在本文中，我们总结了我们对人类胚胎 HPE 的研究，并讨论了 HPE 畸形的发病机制。
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