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Title: Apparently new autosomal dominant Spondyloepimetaphyseal dysplasia: gonadal mosaicism onset
Authors: de Ravel, Thomy ×
De Smet, Luc
Fryns, Jean-Pierre #
Issue Date: Oct-2002
Series Title: Clinical dysmorphology vol:11 issue:4 pages:261-6
Abstract: We report a family in which an apparently previously undescribed form of Spondyloepimetaphyseal dysplasia (SEMD) presented after probable gonadal mosaicism occurred and is inherited in an autosomal dominant mode. The other autosomal dominant SEMDs are compared.
URI: 
ISSN: 0962-8827
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Research Group for Musculoskeletal Rehabilitation
Department of Human Genetics - miscellaneous
× corresponding author
# (joint) last author

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