On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS.
Miyake
Noriko
N
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
Harada
Naoki
N
Shimokawa
Osamu
O
Ohashi
Hirofumi
H
Kurosawa
Kenji
K
Matsumoto
Tadashi
T
Fukushima
Yoshimitsu
Y
Nagai
Toshiro
T
Shotelersuk
Vorasuk
V
Yoshiura
Ko-Ichiro
K
Ohta
Tohru
T
Kishino
Tatsuya
T
Niikawa
Norio
N
Matsumoto
Naomichi
N
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
D005819:Genetic Markers