On the reported 8p22‐p23.1 duplication in Kabuki make‐up syndrome (KMS) and its absence in patients with typical KMS
- 11 May 2004
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 128A (2) , 170-172
- https://doi.org/10.1002/ajmg.a.30137
Abstract
No abstract availableKeywords
This publication has 5 references indexed in Scilit:
- Unmasking Kabuki syndrome: chromosome 8p22–8p23.1 duplication revealed by comparative genomic hybridization and BAC‐FISHClinical Genetics, 2003
- Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23Genomics, 2003
- Kabuki make‐up syndrome: A reviewAmerican Journal Of Medical Genetics Part C-Seminars In Medical Genetics, 2002
- A new malformation syndrome of long palpebralfissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardationThe Journal of Pediatrics, 1981
- Kabuki make-up syndrome: A syndrome of mentalretardation, unusual facies, large and protruding ears, and postnatal growth deficiencyThe Journal of Pediatrics, 1981