Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. Issue 6 (15th September 2014)

• Record Type: Journal Article
• 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
• Is Part Of: Clinical case reports. Volume 2:Issue 6(2014:Dec.)
• Page Start: 250
• Page End: 253
• Publication Date: 2014-09-15
• Subjects: Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.101
• Languages: English
• ISSNs: 2050-0904

Abstract

<abstract abstract-type="main" id="ccr3101-abs-0001"> <title>Key Clinical Message</title> <p>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&gt;T; p.Arg84Cys. This is the first molecularly confirmed PPS family from central Africa.</p> </abstract>