Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome.
L B
LB
Ousager
A
A
Bygum
C
C
Hafner
D000328:Adult; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D054000:Nevus, Sebaceous of Jadassohn / Q000235:genetics* / Q000473:pathology; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics*; D012878:Skin Neoplasms / Q000235:genetics* / Q000473:pathology
C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3