A novel mutation in theTWISTgene, implicated in Saethre–Chotzen syndrome, is found in the original case of Robinow–Sorauf syndrome
- 6 June 2003
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 64 (1) , 79-82
- https://doi.org/10.1034/j.1399-0004.2003.00098.x
Abstract
No abstract availableThis publication has 12 references indexed in Scilit:
- Genetic analysis of patients with the Saethre‐Chotzen phenotypeAmerican Journal of Medical Genetics, 2002
- Mutations in the humanTWIST geneHuman Mutation, 2000
- A Comprehensive Screen for TWIST Mutations in Patients with Craniosynostosis Identifies a New Microdeletion Syndrome of Chromosome Band 7p21.1American Journal of Human Genetics, 1998
- The variable expressivity and incomplete penetrance of the twist-null heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndromeHuman Molecular Genetics, 1998
- Genetic Heterogeneity of Saethre-Chotzen Syndrome, Due to TWIST and FGFR MutationsAmerican Journal of Human Genetics, 1998
- Mutations of the TWIST gene in the Saethre-Chotzene syndromeNature Genetics, 1997
- Mutations in TWIST, a basic helix–loop–helix transcription factor, in Saethre-Chotzen syndromeNature Genetics, 1997
- Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?Journal of Medical Genetics, 1989
- A family study of craniosynostosis, with probable recognition of a distinct syndrome.Journal of Medical Genetics, 1982
- Ein Beitrag zum Turmschädelproblem, (Pathogenese, Erblichkeit und Symptomatologie)Zeitschrift für Neurologie, 1931