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Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.
- Source :
-
Nature genetics [Nat Genet] 2001 Jan; Vol. 27 (1), pp. 17-8. - Publication Year :
- 2001
-
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.
- Subjects :
- Animals
Base Sequence
DNA Mutational Analysis
Exons genetics
Homeodomain Proteins genetics
Humans
Mice
Molecular Sequence Data
Phenotype
Physical Chromosome Mapping
Skull embryology
Transcription Factors genetics
Craniofacial Abnormalities genetics
DNA-Binding Proteins
Genes, Homeobox genetics
Mutation genetics
Osteogenesis genetics
Proteins genetics
Skull abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1061-4036
- Volume :
- 27
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Nature genetics
- Publication Type :
- Academic Journal
- Accession number :
- 11137991
- Full Text :
- https://doi.org/10.1038/83703