TY  - GEN
AU  - Melki,Isabelle
AU  - Lambot,Karen
AU  - Jonard,Laurence
AU  - Couloigner,Vincent
AU  - Quartier,Pierre
AU  - Neven,Bénédicte
AU  - Bader-Meunier,Brigitte
TI  - Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition
SN  - 1098-4275
PY  - 2013///0520
KW  - Genetic Markers
KW  - Hereditary Autoinflammatory Diseases
KW  - complications
KW  - Homozygote
KW  - Humans
KW  - Hyperpigmentation
KW  - etiology
KW  - Hypertrichosis
KW  - Infant
KW  - Male
KW  - Mutation, Missense
KW  - Nucleoside Transport Proteins
KW  - genetics
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1542/peds.2012-2255
ER  -