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- Title
Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
- Authors
Mavrogiannis, Lampros A.; Antonopoulou, Ileana; Baxová, Alica; Kutílek, Stepán; Kim, Chong A.; Sugayama, Sofia M.; Salamanca, Alberto; Wall, Steven A.; Morriss-Kay, Gillian M.; Wilkie, Andrew O.M.
- 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; ref. 2) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 (refs. 3,4) and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.
- Subjects
TRANSCRIPTION factors; HOMEOBOX genes
- Publication
Nature Genetics, 2001, Vol 27, Issue 1, p17
- ISSN
1061-4036
- Publication type
Article
- DOI
10.1038/83703