Article

Clinical dividends from the molecular genetic diagnosis of craniosynostosis†

2007-07-09

Abstract excerpt

Abstract A dozen years have passed since the first genetic lesion was identified in a family with craniosynostosis, the premature fusion of the cranial sutures. Subsequently, mutations in the FGFR2 , FGFR3 , TWIST1 , and EFNB1 genes have been shown to account for ∼25% of craniosynostosis, whilst several additional genes make minor contributions. Using specific examples, we show how these discoveries have enabled r...

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Literature Corpus work: 36e7318c-e628-5a48-a3a7-673c5d0020f3
DOI: 10.1002/ajmg.a.31905

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