Article
Genetic and clinical heterogeneity of Stickler syndrome.
American journal of medical genetics - 1 Oct 1991
Vintiner G M, Temple I K, Middleton-Price H R, Baraitser M, Malcolm S
Abstract excerpt
We have studied 6 multigeneration Stickler syndrome families. Manifestations of the syndrome in the families included myopia, deafness, arthritis, characteristic facial changes with "flat" midface and cleft palate, although not all these were present in all families. COL2A1 has been implicated as...
Topics
- Abnormalities, Multiple
- Base Sequence
- Chromosomes, Human, Pair 17
- Chromosomes, Human, Pair 5
- Collagen
- DNA Probes
- Female
- Genetic Linkage
- Genetic Variation
- Humans
- Male
- Molecular Sequence Data
- Pedigree
- Polymerase Chain Reaction
- Polymorphism, Genetic
- Polymorphism, Restriction Fragment Length
- Syndrome
- Translocation, Genetic