Genet Couns. 1992;3(4):195-9.

Phenotypic variability of mannosidosis type II: report of two Greek siblings.

Michelakakis H, Dimitriou E, Mylona-Karayanni C, Bartsocas CS.

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Department of Enzymology and Cell Function, P. & A. Kyriakou Children's Hospital, Athens, Greece.

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.

PMID:: 1472354; [PubMed - indexed for MEDLINE]

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Phenotypic variability of mannosidosis type II: report of two Greek siblings.

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