| Literature DB >> 11137991 |
L A Mavrogiannis1, I Antonopoulou, A Baxová, S Kutílek, C A Kim, S M Sugayama, A Salamanca, S A Wall, G M Morriss-Kay, A O Wilkie.
Abstract
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.Entities:
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Year: 2001 PMID： 11137991 DOI： 10.1038/83703
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330