title: Split hand foot malformation with whorl-like pigmentary pattern: phenotypic expression of somatic mosaicism for the p63 mutation.
authors.affiliation: Department of Clinical Genetics and Molecular Medicine, National Center for Child Health and Development, Tokyo, Japan. kkosaki@sc.itc.keio.ac.jp
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Yoko
authors.initials: Y
authors.lastname: Naito
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
authors.forename: Tatsuo
authors.initials: T
authors.lastname: Nakajima
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: 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
chemical_list: C081876:CKAP4 protein, human; D008565:Membrane Proteins