Title: Carpal and tarsal synostoses and transverse reduction defects of the toes in two brothers heterozygous for a double de novo NOGGIN mutation
Authors: Debeer, Philippe ×
Huysmans, Christel
Van de Ven, Willem
Fryns, Jean-Pierre
Devriendt, Koenraad #
Issue Date: Apr-2005
Series Title: American Journal of Medical Genetics A vol:134 issue:3 pages:318-320
Abstract: We describe two siblings with carpal and tarsal synostoses associated with transverse deficiencies of the toes. Mutation analysis of the NOG gene revealed a double missense mutation in both boys resulting in Pro42Ala and Pro50Arg. The parents were clinically unaffected, and these two mutations were not detected in their white blood cells or buccal mucosa. This indicates the presence of gonadal mosaicism or a low level of somatic mosaicism in one of the parents.
ISSN: 1552-4825
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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