FIGURE 2
FROM:
Genotype−phenotype studies in nail-patella syndrome show that LMX1B mutation location is involved in the risk of developing nephropathy
Ernie M H F Bongers, Frans T Huysmans, Elena Levtchenko, Jacky W de Rooy, Johan G Blickman, Ronald J C Admiraal, Patrick L M Huygen, Johannes R M Cruysberg, Pauline A M P Toolens, Judith B Prins, Paul F M Krabbe, George F Borm, Jeroen Schoots, Hans van Bokhoven, Angela M F van Remortele, Lies H Hoefsloot, Albert van Kampen and Nine V A M Knoers
BACK TO ARTICLEFigure 2.
(a) Triangular lunula pathognomonic for nail-patella syndrome, longitudinal ridging of the nail, and absent skin creases on the dorsal aspect of the distal interphalangeal joints of the index finger. (b) Lower muscle volume of the dorsal muscle groups (triceps brachi) compared to the ventral counterparts (biceps brachi). (c) Audiogram of a female nail-patella syndrome patient, aged 59 years, from family 26, showing significant bilateral hearing impairment. The circles and solid line indicate the pure tone thresholds of the right ear; the crosses and broken line of the left ear; the solid bold line denotes the P95 of presbyacusis, the dotted line the P78.
