Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation.
Kosaki
Rika
R
Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan. kkosaki@sc.itc.keio.ac.jp
Naito
Yoko
Y
Torii
Chiharu
C
Takahashi
Takao
T
Nakajima
Tatsuo
T
Kosaki
Kenjiro
K
D000013:Congenital Abnormalities / Q000235:genetics*; D004480:Ectromelia / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype
C081876:CKAP4 protein, human; D008565:Membrane Proteins