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

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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

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 paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.[1]

References

  1. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. 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. Nat. Genet. (2001) [Pubmed]
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