Xeroderma pigmentosum group V

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

Select symptom from list or write it in the box
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