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

Ribeiro, Lucilene Arilho; Pereira Bertolacini, Claudia Danielli; Quiezi, Rodrigo Goncalves; Richieri-Costa, Antonio

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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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Author(s):	Ribeiro, Lucilene Arilho ^[1] ; Pereira Bertolacini, Claudia Danielli ^[1] ; Quiezi, Rodrigo Goncalves ^[1] ; Richieri-Costa, Antonio ^[1] Total Authors: 4
Affiliation:	^[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
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. Clin Dysmorphol 20:160-162 (C) 2011 Wolters Kluwer Health \| Lippincott Williams \& Wilkins. (AU)

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