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Title: Cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms as a manifestation of two subtypes?
Authors: Casteels, Ingele ×
Wijnants, A
Casaer, Paul
Eggermont, Ephrem
Misotten, L
Fryns, Jean-Pierre #
Issue Date: Jan-1992
Series Title: Genetic Counseling vol:2 issue:1 pages:43-6
Abstract: In this paper we present two female newborns with the cerebro-oculo-facio-skeletal (COFS) syndrome. The variability of presenting symptoms and differences in clinical evolution of the two infants favour the suggestion of Preus that two subtypes of this autosomal recessive inherited syndrome may exist.
ISSN: 1015-8146
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Section Child - Miscellaneous (-)
Faculty of Medicine - miscellaneous
Clinical Genetics Section (-)
Research Group Ophthalmology
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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