Letter to the Editor
Journal of Investigative Dermatology (2003) 121, 939–942; doi:10.1046/j.1523-1747.2003.12489.x
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* and Peter T Clayton§
- *Institute of Biomedical and Clinical Science, Peninsula Medical School, Exeter, UK;
- †Department of Clinical and Community Genetics, Kennedy-Galton Center, Northwest London Hospitals NHS Trust, Harrow, UK;
- ‡Department of Clinical Genetics, Guy's Hospital, London, UK
- §Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, University College London with Great Ormond Street Hospital, London, UK;
- §§Southwest Thames Regional Genetics Service, St. George's Hospital Medical School, London, UK;
- ¶Department of Clinical Genetics, Yorkshire Regional Genetics Service, St James's University Hospital, Leeds, UK;
- #Department of Clinical Genetics, Churchill Hospital, Oxford, UK;
- **Department of Clinical Genetics, Countess of Chester Hospital, Chester, UK;
Correspondence: Dr Neil V Whittock, Molecular Genetics Laboratory, Royal Devon and Exeter Hospital, Old Pathology Building, Barrack Road, Exeter EX2 5DW, UK. Email: nwhittoc@hgmp.mrc.ac.uk
Received 25 March 2003; Revised 24 April 2003; Accepted 25 April 2003.
Abbreviations:
EBP, emopamil-binding protein gene
