{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:46:00Z","timestamp":1790711160829,"version":"4.1.0"},"reference-count":3,"publisher":"Wiley","issue":"23","license":[{"start":{"date-parts":[[2006,9,25]],"date-time":"2006-09-25T00:00:00Z","timestamp":1159142400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report 22 patients with normal neuropsychological development and a holoprosencephaly\u2010like (HPE\u2010like) phenotype screened for <jats:italic>SHH<\/jats:italic>, <jats:italic>SIX3<\/jats:italic>, <jats:italic>TGIF<\/jats:italic>, and <jats:italic>GLI2<\/jats:italic>. These patients were divided into two groups: (1) 6 patients with <jats:italic>SHH<\/jats:italic> and <jats:italic>GLI2<\/jats:italic> mutations and (2) 16 patients with no detectable mutations. We discuss the phenotypic manifestations, evolution of the phenotype, and neuroimaging in the two groups. Conclusions about the HPE\u2010like phenotype include (1) initial appearance as an unusually wide, and very severe unilateral cleft lip\u2010palate in some cases; (2) variability with the expression of minor anomalies in some cases, such as single maxillary central incisor; (3) identifiable mutations in some cases and absence of mutations in others; (4) essentially normal MRI in the most cases (pituitary tumor in two cases and choroid fissure cyst in one case in Group 1; empty sella turcica in one case in Group 2); (5) intelligence within the normal range; and (6) familial aggregation in some instances. Implications include (1) thorough examination of family members for minor anomalies; (2) MRI and developmental assessment for the proband; and (3) molecular analysis. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31378","type":"journal-article","created":{"date-parts":[[2006,9,25]],"date-time":"2006-09-25T22:56:16Z","timestamp":1159224976000},"page":"2587-2593","source":"Crossref","is-referenced-by-count":25,"title":["Holoprosencephaly\u2010like phenotype: Clinical and genetic perspectives"],"prefix":"10.1002","volume":"140A","author":[{"given":"A.","family":"Richieri\u2010Costa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucilene Arilho","family":"Ribeiro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,9,25]]},"reference":[{"key":"e_1_2_6_2_1","unstructured":"RibeiroL El\u2010JaickK MuenkeM Richieri\u2010CostaA.2004.SIX3andTGIFin holoprosencephaly\u2014Mutations phenotypes and imaging. How different are they?54th Annual Meeting of the American Society of Human Genetics Abstract # 400."},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31379"},{"key":"e_1_2_6_4_1","volume-title":"Classifications of mental and behavioral disorders: Clinical descriptor and diagnostic guide lines","author":"World Health Organization the ICD \u2013 10","year":"1992"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31378","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31378","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T08:55:29Z","timestamp":1694595329000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31378"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,9,25]]},"references-count":3,"journal-issue":{"issue":"23","published-print":{"date-parts":[[2006,12]]}},"alternative-id":["10.1002\/ajmg.a.31378"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31378","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,9,25]]}}}