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Enlarged parietal foramina caused by mutations in the homeobox genes ALX4 and MSX2: from genotype to phenotype.

Abstract:

Heterozygous mutations of the homeobox genes ALX4 and MSX2 cause skull defects termed enlarged parietal foramina (PFM) and cranium bifidum (CB); a single MSX2 mutation has been documented in a unique craniosynostosis (CRS) family. However, the relative mutational contribution of these genes to PFM/CB and CRS is not known and information on genotype-phenotype correlations is incomplete. We analysed ALX4 and MSX2 in 11 new unrelated cases or families with PFM/CB, 181 cases of CRS, and a single ...

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Publication status:
Published

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Publisher copy:
10.1038/sj.ejhg.5201526

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Journal:
European journal of human genetics : EJHG More from this journal
Volume:
14
Issue:
2
Pages:
151-158
Publication date:
2006-02-01
DOI:
EISSN:
1476-5438
ISSN:
1018-4813

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