| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 23 individuals
Add new symptom/sign to this disease
| Pubmed id number as a reference | Organ system affected | ||
| Number of patients in the reference | Percent affected patients (Between 0 and 1, eg. 0.1 = 10%) | ||
| Please provide your name and contact information as a reference | |||
| Name | Institute | Phone number | Email address |
List of symptoms
| Symptom/sign | Organ system | Percent affected | Pubmed id | Added on(yyyy-mm-dd) | Edit/add reference |
| Cancer | integumentary | 87 % | 24130121 | 2015-08-12 | |
| Skin pigmentation changes | integumentary | 79 % | 24130121 | 2015-08-12 | |
| Xerosis | integumentary | 26 % | 24130121 | 2015-08-12 | |
| Sun sensitivity | integumentary | 22 % | 24130121 | 2015-08-12 |
List of references:
Correlation of phenotype/genotype in a cohort of 23 xeroderma pigmentosum-variant patients reveals 12 new disease-causing POLH mutations.
Kristina Opletalova, Agnès Bourillon, Wei Yang, Caroline Pouvelle, Jacques Armier, Emmanuelle Despras, Martin Ludovic, Christine Mateus, Caroline Robert, Patricia Kannouche, Nadem Soufir, Alain Sarasin,
Human mutation - Jan 2014