This journal publishes case reports detailing genetic disorders and their molecular underpinnings. Articles focus on the identification and characterization of pathogenic variants in genes associated with a wide range of conditions, including developmental disorders, skeletal dysplasias, neurological conditions, and cancer syndromes. The reports often explore genotype-phenotype correlations, diagnostic challenges, and the implications for genetic counseling and potential therapeutic interventions.
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Subject Classification
Research Topics (OpenAlex)
Genomic variations and chromosomal abnormalitiesPrenatal Screening and DiagnosticsGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesCongenital heart defects researchGenetic Syndromes and ImprintingConnective tissue disorders researchMitochondrial Function and PathologyChromosomal and Genetic VariationsMetabolism and Genetic Disorders