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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Frontonasal dysplasia, coronal craniosynostosis, pre- and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and variable expression?

A case of frontonasal dysplasia with coronal synostosis, pre- and postaxial polydactyly and longitudinally split nails is described. One relative shows a bifid thumb, and several others have a longitudinally split nail and/or mild facial dysmorphy. An autosomal dominant inheritance with widely variable expression of the mutant gene is suggested.[1]


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