Article
Newly recognised craniosynostosis syndrome that does not map to known disease loci.
American journal of medical genetics - 6 Nov 2000
Blair E M, Walsh S, Oldridge M, Wall S A, Wilkie A O
Abstract excerpt
We describe a consanguineous family of Pakistani origin with five sibs, three of whom were affected by craniosynostosis of variable presentation. In addition, they had other congenital abnormalities principally affecting neurological, ocular, and limb development. We provide linkage evidence using intragenic and flanking microsatellite markers suggesting that the disease in this family was not caused by a...
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