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Title: Glypican 1 gene: good candidate for brachydactyly type E
Authors: Syrrou, Maria ×
Keymolen, Katelÿne
Devriendt, Koenraad
Holvoet, Maureen
Thoelen, Reinhilde
Verhofstadt, K
Fryns, Jean-Pierre #
Issue Date: Mar-2002
Series Title: American Journal of Medical Genetics vol:108 issue:4 pages:310-4
Abstract: In this report, we describe two siblings, a brother and a sister, with mental retardation and limb abnormalities (brachymetacarpy and brachymetatarsy in the brother and clinodactyly in his sister). Fluorescent in situ hybridization analysis (FISH) using subtelomeric probes proved that the patients carried an unbalanced subtelomeric rearrangement with 2qter deletion involving the Glypican 1 gene. Given the expression pattern in the developing limb bud, Glypican 1 gene represents a good candidate for brachydactyly E.
ISSN: 0148-7299
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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