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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

A novel heterozygous missense mutation G316D of SIX3 gene in a Brazilian patient with holoprosencephaly-like phenotype and Langerhans cell histiocytosis

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Ribeiro, Lucilene Arilho [1] ; Pereira Bertolacini, Claudia Danielli [1] ; Quiezi, Rodrigo Goncalves [1] ; Richieri-Costa, Antonio [1]
Total Authors: 4
[1] USP Bauru, Hosp Reabilitacao Anomalias Craniofaciais, Setor Genet, Bauru, SP - Brazil
Total Affiliations: 1
Document type: Journal article
Source: CLINICAL DYSMORPHOLOGY; v. 20, n. 3, p. 160-162, JUL 2011.
Web of Science Citations: 1

Here we report on a Brazilian female patient with the clinical manifestations of the holoprosencephaly-like phenotype who also presented with a retroocular granuloma diagnosed as Langerhans cell histiocytosis in early infancy. Mutation analysis showed a missense mutation (G316D) in the exon 2 of SIX3 gene, which was predicted as damaged by the PolyPhen program. We discuss the clinical and genetic aspects of this unusual case. Clin Dysmorphol 20:160-162 (C) 2011 Wolters Kluwer Health | Lippincott Williams \& Wilkins. (AU)