On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS

Am J Med Genet A. 2004 Jul 15;128A(2):170-2. doi: 10.1002/ajmg.a.30137.

Authors

Noriko Miyake¹, Naoki Harada, Osamu Shimokawa, Hirofumi Ohashi, Kenji Kurosawa, Tadashi Matsumoto, Yoshimitsu Fukushima, Toshiro Nagai, Vorasuk Shotelersuk, Ko-Ichiro Yoshiura, Tohru Ohta, Tatsuya Kishino, Norio Niikawa, Naomichi Matsumoto

Affiliation

¹ Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.

PMID: 15214010
DOI: 10.1002/ajmg.a.30137

No abstract available

MeSH terms

Abnormalities, Multiple / genetics*
Chromosomes, Human, Pair 8*
Facies
Gene Duplication*
Genetic Markers
Growth Disorders / genetics
Humans
In Situ Hybridization, Fluorescence
Intellectual Disability / genetics
Models, Genetic
Musculoskeletal Abnormalities / genetics
Phenotype
Polymorphism, Genetic
Skin Abnormalities / genetics
Syndrome

Substances

Genetic Markers