Article
A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.
Nature genetics - 1 Dec 1998
Ross A J, Ruiz-Perez V, Wang Y, Hagan D M, Scherer S, Lynch S A, Lindsay S, Custard E, Belloni E, Wilson D I, Wadey R, Goodman F, Orstavik K H, Monclair T, Robson S, Reardon W, Burn J, Scambler P, Strachan T
Abstract excerpt
Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal dominant trait; association with anterior meningocoele, presacral teratoma and anorectal abnormalities constitutes the Currarino triad (MIM 176450). Malformation at the caudal end of the developing notocho...
Topics
- Base Sequence
- Bone Diseases
- Chromosomes, Human, Pair 1
- Female
- Genes, Dominant
- Genes, Homeobox
- Haplotypes
- Humans
- Male
- Pedigree
- Phenotype
- Physical Chromosome Mapping
- Sacrum