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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.

Original publication




Journal article


Nat Genet

Publication Date





17 - 18


Animals, Base Sequence, Craniofacial Abnormalities, DNA Mutational Analysis, DNA-Binding Proteins, Exons, Genes, Homeobox, Homeodomain Proteins, Humans, Mice, Molecular Sequence Data, Mutation, Osteogenesis, Phenotype, Physical Chromosome Mapping, Proteins, Skull, Transcription Factors