Article
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
Nature genetics - 1 Jan 2001
Mavrogiannis L A, Antonopoulou I, Baxová A, Kutílek S, Kim C A, Sugayama S M, Salamanca A, Wall S A, Morriss-Kay G M, Wilkie A O
Abstract excerpt
Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a...
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