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Early pathogenesis of holoprosencephaly
Author(s) -
Shiota Kohei,
Yamada Shigehito
Publication year - 2010
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30248
Subject(s) - holoprosencephaly , craniofacial , pathogenesis , in utero , embryo , medicine , phenotype , congenital malformations , biology , anatomy , pregnancy , fetus , pathology , genetics , gene
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. © 2010 Wiley‐Liss, Inc.