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  • Title: Phenotypic variability of mannosidosis type II: report of two Greek siblings.
    Author: Michelakakis H, Dimitriou E, Mylona-Karayanni C, Bartsocas CS.
    Journal: Genet Couns; 1992; 3(4):195-9. PubMed ID: 1472354.
    Abstract:
    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 disorder, as well as spondylolisthesis. His sister, apart from heavy eyebrows and lower jaw prognathism appeared normal.
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