Reversed clinical phenotype due to a microduplication of Sotos syndrome region detected by array CGH: Microcephaly, developmental delay and delayed bone age
Han Zhang(Jilin University), Ji‐Yun Lee(University of Oklahoma Health Sciences Center), Julie Beasley(University of Oklahoma Health Sciences Center), Shibo Li(University of Oklahoma Health Sciences Center), Xianglan Lu(OU Health), Ruizhi Liu(Durham University), John J. Mulvihill(University of Limerick)
Cited by 30
Related Papers
Localization of the gene for Cowden disease to chromosome 10q22–23
|Nature Genetics|1996|670
The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease
|The American Journal of Human Genetics|2017|188
X Chromosome Dose and Sex Bias in Autoimmune Diseases: Increased Prevalence of 47,XXX in Systemic Lupus Erythematosus and Sjögren's Syndrome
|Arthritis & Rheumatology|2015|176
National Institutes of Health State-of-the-Science Conference Statement: Family History and Improving Health.
|PubMed|2009|163
A dyadic approach to the delineation of diagnostic entities in clinical genomics
|The American Journal of Human Genetics|2021|116