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Frontonasal dysplasia, coronal cranisoynostosis, pre‐ and postaxial polydactyly and split nails: a new autosomal dominant mutant with reduced penetrance and varibale expression?
Author(s) -
Kwee M. L.,
Lindhout D.
Publication year - 1983
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1983.tb02240.x
Subject(s) - penetrance , mutant , polydactyly , dysplasia , medicine , biology , anatomy , genetics , phenotype , gene
A case of fronotonasal dysplasia with coronal synostosis, pre‐ and postaxial polydactyly and longitudinally split nails is descirbed. One relative shows a bifid tumb, and several others have a longitudinally spilit nail and/or mild facial dysmorphy. An autosomal dominat inheritance with widely varibale expression of the mutant gene is suggested.