Marked phenotypic variable expression among brothers with duplication of Xq27.1 involving the SOX3 gene.

Abstract

We describe four phenotypically different brothers who share the same microduplication of Xq27.1, which contains the SOX3 gene. SOX3 mutations have been associated with growth hormone deficiency, variable degrees of additional pituitary hormone deficiencies, and mental retardation. SOX3 also appears to play an important role in pharyngeal arch segmentation… (More)
DOI: 10.1515/jpem-2015-0131

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