Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

Mubungu, Gerrye; Lumaka Zola, 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

doi:10.1002/ccr3.101

Article (Scientific journals)

Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

Mubungu, Gerrye; Lumaka Zola, Aimé; Matondo, Rosette et al.

2014 • In Clinical Case Reports, 2 (6), p. 250-3

Peer Reviewed verified by ORBi

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https://hdl.handle.net/2268/231821

DOI
10.1002/ccr3.101

PubMed
25548624

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Keywords :

Central Africa; oligodactyly; popliteal pterygium syndrome; pyramidal skinfold; syngnathia

Abstract :

[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.

Disciplines :

Genetics & genetic processes

Author, co-author :

Mubungu, Gerrye

Lumaka Zola, Aimé ; Université de Liège - ULiège > Human Genetics

Matondo, Rosette

Mbayabo, Gloire

Tuka, Deborah

Kayembe, Claudarche

Mulowhe, Didier

Molua, Antoine

Tady, Bruno-Paul

Nkidiaka, Emmanuel

More authors (3 more)

Language :

English

Title :

Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.

Publication date :

2014

Journal title :

Clinical Case Reports

eISSN :

2050-0904

Publisher :

Wiley-Blackwell, Hoboken, United Kingdom

Volume :

Issue :

Pages :

250-3

Peer reviewed :

Peer Reviewed verified by ORBi

Available on ORBi :

since 18 January 2019

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