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Title: Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability
Authors: Mubungu, Gerrye
Lumaka, Aimé
Matondo, Rosette
Mbayabo, Gloire
Tuka, Deborah
Kayembe, Claudarche
Mulowhe, Didier
Molua, Antoine
Tady, Bruno-Paul
Nkidiaka, Emmanuel
Bunga, Paulo
Lukusa-Tshilobo, Prosper
Devriendt, Koenraad # ×
Issue Date: Dec-2014
Series Title: Clinical case reports vol:2 issue:6 pages:250-3
Article number: 10.1002/ccr3.101
Abstract: We report on three related Congolese popliteal pterygium syndrome (PPS) patients concordant only for the skinfold over the toenail. Mutation analysis revealed that the three affected individuals carried a heterozygous missense mutation in the Exon 4, NM_006147.2:c.250C>T; p.Arg84Cys. This is the first molecularly confirmed PPS family from central Africa.
ISSN: 2050-0904
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Department of Human Genetics - miscellaneous
Laboratory for Genetics of Human Development
× corresponding author
# (joint) last author

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