Article
Linkage of a human brain malformation, familial holoprosencephaly, to chromosome 7 and evidence for genetic heterogeneity.
Proceedings of the National Academy of Sciences of the United States of America - 16 Aug 1994
Muenke M, Gurrieri F, Bay C, Yi D H, Collins A L, Johnson V P, Hennekam R C, Schaefer G B, Weik L, Lubinsky M S
Abstract excerpt
Holoprosencephaly (HPE) is a common malformation of the developing forebrain and midface characterized by incomplete penetrance and variable expressivity. Familial HPE has been reported in many families with autosomal dominant inheritance in some and apparent autosomal recessive inheritance in ot...
Topics
- Adolescent
- Adult
- Aged
- Blotting, Southern
- Cell Line
- Child
- Child, Preschool
- Chromosomes, Human, Pair 7
- DNA
- Female
- Genes, Dominant
- Genetic Linkage
- Genetic Markers
- Holoprosencephaly