Xeroderma pigmentosum group V
XPV

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Prevalence (%) of clinical parameters based on data from 1 references describing 23 individuals







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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%)
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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, Agn├Ęs 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