Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2010 Feb 15;154C(1):22-8.
doi: 10.1002/ajmg.c.30248.

Early pathogenesis of holoprosencephaly

Kohei Shiota  1 , Shigehito Yamada
Affiliations
Review

Early pathogenesis of holoprosencephaly

Kohei Shiota et al. Am J Med Genet C Semin Med Genet. .

Abstract

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.

PubMed Disclaimer

Publication types

LinkOut - more resources