1. Novel Mutations in X-Linked Dominant Chondrodysplasia Punctata (CDPX2)
Neil V. Whittock, Louise Izatt, Anuska Mann, Tessa Homfray, Christopher Bennett, Sahar Mansour, Jane Hurst, Alan Fryer, Anand K. Saggar, Julian G. Barwell, Sian Ellard, Peter T. Clayton 
Journal of Investigative Dermatology 
Volume 121, Issue 4, Pages (October 2003)
DOI: /j x
Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

2. Figure 1
Clinical appearance of proband 10, affected by X-linked dominant chondrodysplasia punctata. (a) Asymmetric facial appearance, showing coarse, sparse hair, undirected growth of eyebrows with sparse lateral growth, a flat nasal bridge, bilateral epicanthus, and strabismus. (b) Cicatricial alopecia and sparse irregular hair growth and premature graying. (c) Short fingers, with fifth finger clinodactyly and short-terminal phalanx left fifth finger. (d) Right mild two-thirds toe syndactyly, toenail dystrophy, and hyperkeratosis.
Journal of Investigative Dermatology  , DOI: ( /j x)
Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

3. Figure 2
Mutations in CDPX2. Schematic diagram of the emopamil-binding protein with the mutations characterized to date.
Journal of Investigative Dermatology  , DOI: ( /j x)
Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions