This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.
Application of next generation sequencing in genetic counseling a case of a couple at risk of cystinosis
In Morocco, consanguinity rate is very high; which lead to an increase in the birth prevalence of infants with autosomal recessive disorders. Previously, it was difficult to diagnose rare autosomal recessive d...
Citation: BMC Medical Genetics 2020 21:240