Reference : Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Cong...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/231821
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
English
Mubungu, Gerrye [> >]
Lumaka Zola, Aimé mailto [Université de Liège - ULiège > > Human Genetics >]
Matondo, Rosette [> >]
Mbayabo, Gloire [> >]
Tuka, Deborah [> >]
Kayembe, Claudarche [> >]
Mulowhe, Didier [> >]
Molua, Antoine [> >]
Tady, Bruno-Paul [> >]
Nkidiaka, Emmanuel [> >]
Bunga, Paulo [> >]
Lukusa Tshilobo, Prosper [> >]
Devriendt, Koenraad [> >]
2014
Clinical Case Reports
2
6
250-3
Yes (verified by ORBi)
International
20500904
United Kingdom
[en] Central Africa ; oligodactyly ; popliteal pterygium syndrome ; pyramidal skinfold ; syngnathia
[en] KEY CLINICAL MESSAGE: 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.
http://hdl.handle.net/2268/231821
10.1002/ccr3.101

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