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All affected children had psychomotor delay with microcephaly, often associated with endocrine, digestive, and respiratory abnormalities, and thermal dysregulation. Among 173 subjects in the molecular study, 28 heterozygous mutations were identified (16%): 15 SHH mutations, 6 ZIC2 mutations, 5 SIX3 mutations, and 2 TGIF mutations. \u00a9 2004 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.30110","type":"journal-article","created":{"date-parts":[[2004,5,26]],"date-time":"2004-05-26T15:13:10Z","timestamp":1085584390000},"page":"21-24","source":"Crossref","is-referenced-by-count":68,"title":["Phenotypic and molecular variability of the holoprosencephalic spectrum"],"prefix":"10.1002","volume":"129A","author":[{"given":"Leila","family":"Lazaro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christ\u00e9le","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laurent","family":"Pasquier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Franck Le","family":"Duff","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martine","family":"Blayau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Ren\u00e9e","family":"Durou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Armelle Thomas de la","family":"Pinti\u00e8re","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C\u00e9line","family":"Aguilella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"V\u00e9ronique","family":"David","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvie","family":"Odent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,7,15]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1196-353"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/10.8.791"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20495"},{"key":"e_1_2_6_5_1","first-page":"240","volume-title":"Molecular basis of inborn errors of development","author":"Cohen MM","year":"2003"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0709-3"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.8.3.285"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5916"},{"key":"e_1_2_6_9_1","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1038\/76074","article-title":"Mutations in TGIF cause holoprosencephaly and link NODAL signaling to human neural axis determination","volume":"2","author":"Gripp KW","year":"2000","journal-title":"Nat Genet"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0028-1091850"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/tera.1420230304"},{"key":"e_1_2_6_12_1","first-page":"887","article-title":"Holoprosencephaly","volume":"128","author":"Lowry RB","year":"1974","journal-title":"Am J Dis Child"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1998.tb02666.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-002-0695-5"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.13.2479"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010722)102:1<1::AID-AJMG1336>3.0.CO;2-U"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010915)103:1<75::AID-AJMG1502>3.0.CO;2-R"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.9.1683"},{"key":"e_1_2_6_19_1","unstructured":"OuspenskaiaMV KarkeraJD RoesslerE ShenMM GoldmuntsE BowersP TowbinJ BelmontJ MuenkeM.2002.Role ofFAST1gene in the development of holoprosencephaly (HPE) and congenital cardiac malformations in humans. 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