1.
Clin Case Rep
; 2(6): 250-3, 2014 Dec.
Artículo
en Inglés
| MEDLINE
| ID: mdl-25548624
RESUMEN
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.