TY  - GEN
AU  - De Palma,Armando
AU  - Morren,Marie-Anne
AU  - Ged,Cécile
AU  - Pouvelle,Caroline
AU  - Taïeb,Alain
AU  - Aoufouchi,Said
AU  - Sarasin,Alain
TI  - Diagnosis of Xeroderma pigmentosum variant in a young patient with two novel mutations in the POLH gene
SN  - 1552-4833
PY  - 2017///1130
KW  - Adolescent
KW  - DNA Damage
KW  - genetics
KW  - DNA Repair
KW  - DNA-Directed DNA Polymerase
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Male
KW  - Mutation
KW  - Skin Neoplasms
KW  - Sunburn
KW  - Sunlight
KW  - Xeroderma Pigmentosum
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1002/ajmg.a.38340
ER  -