학술논문
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.
Document Type
Article
Author
Source
Subject
*PTERYGIUM
*SKINFOLD thickness
*TOENAILS
*MISSENSE mutation
*EXONS (Genetics)
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Language
ISSN
2050-0904
Abstract
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. [ABSTRACT FROM AUTHOR]