A missense mutation in KRT14 causing a dermatopathia pigmentosa reticularis/Naegeli-Franceschetti-Jadassohn phenotype.
van Steensel
M A M
MA
Lemmink
H H
HH
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D017495:Hyperpigmentation / Q000235:genetics*; D020125:Mutation, Missense; D010641:Phenotype