Molecular Syndromology

Advancing Understanding of Genetic Syndromes through Molecular Insights

Molecular Syndromology aims to furnish the medical genetics community with clinically useful information regarding genetic and genomic disorders. The scope of Molecular Syndromology includes papers that elucidate the molecular and biochemical basis of the disease, genotype-phenotype correlations, and the prognosis and treatment options based on knowledge of the underlying mutation(s). To do so, Molecular Syndromology publishes research and review articles, case reports revealing novel genes, mutations and phenotypes, and summaries of symposia and workshops on themes with relevance to clinical genetics.