@article{3afe4c8e52cf47f9b94ed95d4d5b70d4,
title = "Novel mutations in X-linked dominant chondrodysplasia punctata (CDPX2)",
keywords = "Adolescent, Adult, Carrier Proteins/genetics, Child, Preschool, Chondrodysplasia Punctata/genetics, Chromosomes, Human, X, Female, Genes, Dominant, Humans, Infant, Point Mutation, Steroid Isomerases",
author = "Whittock, {Neil V} and Louise Izatt and Anuska Mann and Tessa Homfray and Christopher Bennett and Sahar Mansour and Jane Hurst and Alan Fryer and Saggar, {Anand K} and Barwell, {Julian G} and Sian Ellard and Clayton, {Peter T}",
year = "2003",
month = oct,
day = "1",
doi = "10.1046/j.1523-1747.2003.12489.x",
language = "English",
volume = "121",
pages = "939 -- 942",
journal = "Journal of Investigative Dermatology",
issn = "1523-1747",
publisher = "Nature Publishing Group",
number = "4",
}