Article
A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis.
Cell - 5 Nov 1993
Jabs E W, Müller U, Li X, Ma L, Luo W, Haworth I S, Klisak I, Sparkes R, Warman M L, Mulliken J B
Abstract excerpt
Craniosynostosis, the premature fusion of calvarial sutures, is a common developmental anomaly that causes abnormal skull shape. The locus for one autosomal dominant form of craniosynostosis has been mapped to chromosome 5qter. The human MSX2 gene localizes to chromosome 5, and a polymorphic marker in the MSX2 intron segregates in a kindred with the disorder with no recombination. Moreover, a histidine...
Topics
- Acrocephalosyndactylia
- Amino Acid Sequence
- Base Sequence
- Chromosome Mapping
- Cloning, Molecular
- Conserved Sequence
- Cranial Sutures
- Craniosynostoses
- DNA-Binding Proteins
- Female
- Genes