A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1-Reference-Cited by-同舟云学术

A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1

Published:1998-11 Issue:5 Volume:63 Page:1282-1293
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Johnson David,Horsley Sharon W.,Moloney Dominique M.,Oldridge Michael,Twigg Stephen R.F.,Walsh Sinead,Barrow Margaret,Njølstad Pål R.,Kunz Jürgen,Ashworth Geraldine J.,Wall Steven A.,Kearney Lyndal,Wilkie Andrew O.M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference40 articles.

1. The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome;Bourgeois;Hum Mol Genet,1998

2. The human H-twist gene is located at 7p21 and encodes b-HLH protein that is 96% similar to its murine M-twist counterpart;Bourgeois;Mamm Genome,1996

3. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p;Brueton;J Med Genet,1992

4. A physical map of human chromosome 7: an integrated YAC contig map with average STS spacing of 79 kb;Bouffard;Genome Res,1997

5. Six cases of 7p deletion: clinical, cytogenetic and molecular studies;Chotai;Am J Med Genet,1994

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