{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:45:41Z","timestamp":1790711141319,"version":"4.1.0"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2010,1,26]],"date-time":"2010-01-26T00:00:00Z","timestamp":1264464000000},"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 C"],"published-print":{"date-parts":[[2010,2,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here we report on the clinical and genetic data for a large sample of Brazilian patients studied at the Hospital de Reabilita\u00e7\u00e3o de Anomalas Craniofaciais\u2014Universidade de S\u00e3o Paulo (HRAC\u2010USP) who presented with either the classic holoprosencephaly or the holoprosencephaly\u2010like (HPE\u2010L) phenotype. The sample included patients without detected mutations in some HPE determinant genes such as <jats:italic>SHH<\/jats:italic>, <jats:italic>GLI2<\/jats:italic>, <jats:italic>SIX3<\/jats:italic>, <jats:italic>TGIF<\/jats:italic>, and <jats:italic>PTCH<\/jats:italic>, as well as the photographic documentation of the previously reported patients in our Center. The HPE\u2010L phenotype has been also called of HPE \u201cminor forms\u201d or \u201cmicroforms.\u201d The variable phenotype, the challenge of genetic counseling, and the similarities to patients with isolated cleft lip\/palate are discussed. \u00a9 2010 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.c.30247","type":"journal-article","created":{"date-parts":[[2010,1,26]],"date-time":"2010-01-26T22:19:12Z","timestamp":1264544352000},"page":"149-157","source":"Crossref","is-referenced-by-count":18,"title":["Holoprosencephaly and holoprosencephaly\u2010like phenotypes: Review of facial and molecular findings in patients from a craniofacial hospital in Brazil"],"prefix":"10.1002","volume":"154C","author":[{"given":"Antonio","family":"Richieri\u2010Costa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucilene 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