Article
Phenotypic variability of mannosidosis type II: report of two Greek siblings.
Genetic counseling (Geneva, Switzerland) - 1 Jan 1992
Michelakakis H, Dimitriou E, Mylona-Karayanni C, Bartsocas C S
Abstract excerpt
Two patients, a 13-year-old boy and his 24-year-old sister, were diagnosed as mannosidosis type II cases, on the basis of both presenting extremely reduced plasma and white blood cell acid-alpha-mannosidase are reported. With the exception of mental retardation and neurosensory deafness the two siblings manifested a wide phenotypic variability. The boy had several facial features indicating a lysosomal storage...
Topics
- Adolescent
- Adult
- Female
- Humans
- Intellectual Disability
- Lumbar Vertebrae
- Male
- Mannosidases
- Phenotype
- Spondylolisthesis
- alpha-Mannosidase
- alpha-Mannosidosis