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Clin Dysmorphol. 2011 Jul;20(3):160-2. doi: 10.1097/MCD.0b013e32834116ae.

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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  • 1Setor de Genética, Hospital de Reabilitação de Anomalias Craniofaciais, USP/Bauru, Brazil.

Abstract

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.

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