Early pathogenesis of holoprosencephaly

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Kohei Shiota, Shigehito Yamada

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.

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Citations

Oct 19, 2011·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Iêda M OrioliEduardo E Castilla
Jan 16, 2015·Radiographics : a Review Publication of the Radiological Society of North America, Inc·Thomas C WinterPaula J Woodward
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Mar 28, 2018·Human Molecular Genetics·Sungkook HongMaximilian Muenke
Apr 18, 2018·The Anatomical Record : Advances in Integrative Anatomy and Evolutionary Biology·Kohei Shiota
May 18, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Erich RoesslerMaximilian Muenke
Sep 23, 2010·Current Opinion in Pediatrics·Emily F Kauvar, Maximilian Muenke
May 12, 2018·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Mingi Hong, Robert S Krauss
Sep 11, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ping HuMaximilian Muenke
Feb 12, 2021·Animals : an Open Access Journal From MDPI·Rodolfo Martín-Del-CampoAlejandra García-Gasca
May 26, 2011·Current Opinion in Pediatrics

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