Article
TWIST gene mutation in a patient with radial aplasia and craniosynostosis: further evidence for heterogeneity of Baller-Gerold syndrome.
American journal of medical genetics - 15 Jan 1999
Gripp K W, Stolle C A, Celle L, McDonald-McGinn D M, Whitaker L A, Zackai E H
Abstract excerpt
The term Baller-Gerold syndrome was coined by Cohen [1979: Birth Defects 15(5B): 13-63] to designate the phenotype of craniosynostosis and radial aplasia. It is thought to be a rare autosomal recessive condition, which, in some patients, presents with additional abnormalities, such as polymicrogy...
Topics
- Adolescent
- Adult
- Craniosynostoses
- Facies
- Female
- Genetic Heterogeneity
- Humans
- Infant, Newborn
- Male
- Mutation
- Nuclear Proteins
- Radius
- Syndrome
- Transcription Factors
- Twist-Related Protein 1