A Japanese piebald patient with auburn hair colour associated with a novel mutation p.P832L in the KIT gene and a homozygous variant p.I120T in the MC1R gene.
Department of Dermatology, Kinki University School of Medicine, 377-2 Ohno-Higashi, Osaka-Sayama, Osaka, Japan. naoiso@med.kindai.ac.jp
N
N
Oiso
K
K
Kishida
K
K
Fukai
T
T
Motokawa
N
N
Hosomi
T
T
Suzuki
Y
Y
Mitsuhashi
R
R
Tsuboi
A
A
Kawada
D005260:Female; D006200:Hair Color / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D007223:Infant; D020125:Mutation, Missense / Q000235:genetics*; D010641:Phenotype; D016116:Piebaldism / Q000235:genetics*; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*
D044102:Receptor, Melanocortin, Type 1; D019009:Proto-Oncogene Proteins c-kit