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Not surprisingly, the patients with patterns of moderate dyslipidaemia had a relatively high prevalence of monogenic disorders.
We propose that cSMART represents a promising new approach for reliable and accurate NIPT of monogenic disorders, since the assay requires only prior knowledge of the parental pathogenic mutations.
The monogenic disorders account for a small part of mortality and morbidity in the general population, which is mainly contributed by complex multifactorial disorders like diabetes, hypertension, coronary artery disease, etc.
X-linked diseases are monogenic disorders that are associated with defective genes on the X chromosome.
Monogenic disorders are more straightforward in terms of testing because the genetic defect (pathogenic mutation) in a single gene is the direct cause of the disorder.
Peter Ray provides insight into the relationship between pharmacogenetic testing and genetic testing for monogenic disorders.
Recessive diseases are monogenic disorders that occur from an individual having inherited two defective copies or alleles.
The shortage of trained genetic professionals leaves much of the population without access to appropriate services, despite recognition of the role of genetics in monogenic disorders and common mutltifactorial diseases such as cancer, diabetes and heart disease.
Human monogenic disorders that confer predisposition to specifi c infections (Capucine Picard, Laurent Abel and Jean-Laurent Casanova).
Environmental factors can influence the clinical expression of monogenic disorders and are frequently necessary for the clinical expression of the polygenic disorders.