A New Twist: Some Patients with Saethre-Chotzen Syndrome Have a Microdeletion Syndrome-Reference-Cited by-同舟云学术

A New Twist: Some Patients with Saethre-Chotzen Syndrome Have a Microdeletion Syndrome

Published:1998-11 Issue:5 Volume:63 Page:1277-1281
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Zackai Elaine H.,Stolle Catherine A.

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference33 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 family study of craniosynostosis, with probable recognition of a distinct syndrome;Carter;J Med Genet,1982

5. Eine eigenartige familiäre Entwicklungsstörung. (Akrocephalosyndaktylie, Dysostosis craniofacialis and Hypertelorismus);Chotzen;Mschr Kinderheilk,1932

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