This section considers studies of the association of variations in the human genome with human health and disease, their prevalence within populations and their interactions with environmental factors.
Xp11.22 duplications in four unrelated Chinese families: delineating the genotype-phenotype relationship for HSD17B10 and FGD1
Xp11.22 duplications have been reported to contribute to nonsyndromic intellectual disability (ID). The HUWE1 gene has been identified in all male Xp11.22 duplication patients and is associated with nonsyndromic ...
Citation: BMC Medical Genomics 2020 13:66