Title: Fine mapping of X-linked clasped thumb and mental retardation (MASA syndrome) in Xq28
Authors: Legius, Eric ×
Kaepernick, L
Higgins, J V
Glover, T W #
Issue Date: Sep-1994
Series Title: Clinical Genetics vol:45 issue:4 pages:165-8
Abstract: The MASA syndrome is an X-linked disorder with mental retardation, spastic paraparesis, and adducted thumbs as the most characteristic features. We performed linkage analysis, using Xq28 markers, on a large MASA syndrome family. The maximum lodscore was 6.37 at 0 recombination for DXS52 and 5.99 at 0 recombination for DXS305. Crossovers were demonstrated between the disorder and DXS455. Clinical and linkage data from this family further support the hypothesis that the MASA syndrome and X-linked hydrocephalus are allelic disorders.
ISSN: 0009-9163
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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