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Nat Genet. 2001 Jan;27(1):17-8.

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

Author information

1
Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK.

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.

PMID:
11137991
DOI:
10.1038/83703
[Indexed for MEDLINE]

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