Download presentation
Presentation is loading. Please wait.
Published byJerzy Matuszewski Modified over 5 years ago
1
Piebaldism and Neurofibromatosis Type 1: Horses of Very Different Colors
Richard A. Spritz Journal of Investigative Dermatology Volume 122, Issue 2, Pages xxxiv-xxxv (February 2004) DOI: /j X x Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions
2
Figure 1 A patient with autosomal dominant piebaldism due to a KIT gene mutation. This patient is heterozygous for an R791G missense substitution in the kinase domain of the KIT polypeptide (Spritz et al, 1993). Note café-au-lait spots and axillary freckling. Her mother is similarly affected (as are many other relatives), but neither have any nonpigmentary features of NF1. Journal of Investigative Dermatology , xxxiv-xxxvDOI: ( /j X x) Copyright © 2004 The Society for Investigative Dermatology, Inc Terms and Conditions
Similar presentations
© 2025 SlidePlayer.com. Inc.
All rights reserved.