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Title: A young female with asymmetric manifestations of larsen syndrome: another example of unilateral somatic cell-line mosaicism
Authors: Frints, Suzanna ×
De Smet, Luc
Fabry, Guy
Fryns, Jean-Pierre #
Issue Date: 2000
Series Title: Clinical dysmorphology. vol:9 issue:4 pages:273-6
Abstract: Larsen syndrome is characterized by multiple congenital joint dislocations, typical skeletal defects and facial dysmorphism. In this article, we present a female patient with asymmetric Larsen syndrome. We hypothesise that the asymmetric distribution of clinical features in our patient is likely caused by post-zygotic somatic cell-line mosaicism of a dominant gene mutation.
ISSN: 0962-8827
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Orthopaedics Section (-)
Clinical Genetics Section (-)
Department of Human Genetics - miscellaneous
Research Group for Musculoskeletal Rehabilitation
Clinical Genetics
× corresponding author
# (joint) last author

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