title: Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome: a case with a novel p63 mutation associated with abnormal keratohyalin granules.
authors.affiliation: Department of Dermatology, Sapporo Medical University, South 1, West 16, Chuo-ku, Sapporo 060-8543, Japan.
authors.forename: Tokimasa
authors.initials: T
authors.lastname: Hida
authors.affiliation: Department of Dermatology, Sapporo Medical University, South 1, West 16, Chuo-ku, Sapporo 060-8543, Japan.
authors.forename: Kimi
authors.initials: K
authors.lastname: Kase
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Hamada
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
authors.forename: Mitsuhiro
authors.initials: M
authors.lastname: Matsuda
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, Kurume, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Hashimoto
authors.affiliation: Department of Dermatology, Sapporo Medical University, South 1, West 16, Chuo-ku, Sapporo 060-8543, Japan.
authors.forename: Toshiharu
authors.initials: T
authors.lastname: Yamashita
mesh_terms: D002971:Cleft Lip / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D002972:Cleft Palate / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D004476:Ectodermal Dysplasia / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D005124:Eye Abnormalities / Q000235:genetics* / Q000378:metabolism* / Q000473:pathology; D005143:Eyelids / Q000002:abnormalities* / Q000378:metabolism / Q000473:pathology; D006801:Humans; D006818:Hyalin / Q000378:metabolism*; D007231:Infant, Newborn; D007633:Keratins / Q000378:metabolism*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense
chemical_list: C081876:CKAP4 protein, human; D008565:Membrane Proteins; C001500:keratohyalin; D007633:Keratins