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

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....

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2014
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4270704/
https://www.ncbi.nlm.nih.gov/pubmed/25548624
http://dx.doi.org/10.1002/ccr3.101

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