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Although HPE is rather rare in newborns (1\/10,000\u201315,000 births), it is frequently encountered in therapeutic abortuses (&gt;1\/250). To date, nine gene mutations responsible for human HPE have been identified, but the pathogenetic mechanisms of the craniofacial anomalies in HPE have just begun to be understood. Here, we summarize our studies on human embryos with HPE and discuss the embryogenesis and the underlying molecular mechanisms of HPE malformations under the following headings: pathology, pathogenesis, and critical period of development. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32020","type":"journal-article","created":{"date-parts":[[2007,10,26]],"date-time":"2007-10-26T20:13:21Z","timestamp":1193429601000},"page":"3079-3087","source":"Crossref","is-referenced-by-count":24,"title":["Embryogenesis of holoprosencephaly"],"prefix":"10.1002","volume":"143A","author":[{"given":"Kohei","family":"Shiota","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigehito","family":"Yamada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Munekazu","family":"Komada","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Ishibashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,11,28]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/jez.1400670203"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1086\/394504"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/394509"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990625)89:2<116::AID-AJMG10>3.0.CO;2-4"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10587"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.26.3.990-1001.2006"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-353"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn797"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.0714-06.2006"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/383407a0"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420400304"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320340232"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1546"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20495"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20295"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10258"},{"key":"e_1_2_7_18_1","first-page":"125","article-title":"Holoprosencephaly and facial dysmorphia: Nosology, etiology and pathogenesis","author":"Cohen MM","year":"1971","journal-title":"Birth Defects Orig Art Ser"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.280.5369.1603"},{"key":"e_1_2_7_20_1","first-page":"431","volume-title":"Handbook of clinical neurology","author":"DeMyer WE","year":"1977"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.34.2.256"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.121.7.2099"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-2-8"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1741-4520.2003.tb01022.x"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(95)00185-0"},{"key":"e_1_2_7_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90536-7"},{"key":"e_1_2_7_27_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.124.11.2203"},{"key":"e_1_2_7_28_1","first-page":"295","article-title":"Cycloc\u00e9phalie: Morphog\u00e8n\u00e9se et m\u00e9chanisme de sa production","volume":"46","author":"Giroud A","year":"1963","journal-title":"Arch Anat"},{"key":"e_1_2_7_29_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199811000-00001"},{"key":"e_1_2_7_30_1","unstructured":"GoldenJ McFaddenK BeesleyJ GrinspanJ.1997.Ectopic BMP5 and BMP4 in chick forebrain lead to cyclopia and holoprosencephaly(abstract). 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