title: On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Osamu
authors.initials: O
authors.lastname: Shimokawa
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Ohashi
authors.forename: Kenji
authors.initials: K
authors.lastname: Kurosawa
authors.forename: Tadashi
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Yoshimitsu
authors.initials: Y
authors.lastname: Fukushima
authors.forename: Toshiro
authors.initials: T
authors.lastname: Nagai
authors.forename: Vorasuk
authors.initials: V
authors.lastname: Shotelersuk
authors.forename: Ko-Ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Tohru
authors.initials: T
authors.lastname: Ohta
authors.forename: Tatsuya
authors.initials: T
authors.lastname: Kishino
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8; D019066:Facies; D020440:Gene Duplication; D005819:Genetic Markers; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008957:Models, Genetic; D009139:Musculoskeletal Abnormalities / Q000235:genetics; D010641:Phenotype; D011110:Polymorphism, Genetic; D012868:Skin Abnormalities / Q000235:genetics; D013577:Syndrome
chemical_list: D005819:Genetic Markers