TY  - GEN
AU  - Nellen,Ruud G L
AU  - Nagtzaam,Ivo F
AU  - Hoogeboom,A Jeannette M
AU  - Bladergroen,Reno S
AU  - Jonkman,Marcel F
AU  - Steijlen,Peter M
AU  - van Steensel,Maurice A M
AU  - van Geel,Michel
TI  - Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1
SN  - 1600-0625
PY  - 2016///1027
KW  - Child, Preschool
KW  - Humans
KW  - Hyperkeratosis, Epidermolytic
KW  - genetics
KW  - Keratin-1
KW  - Male
KW  - Phenotype
N1  - Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1111/exd.12786
ER  -