Fig. 3: Genes and diagnostic groups.
From: Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders
A The frequency of the genes in which variants were identified within our cohort, illustrating the genetic diversity of the disorders. B Cases are categorized into the diagnostic groups as defined in the Nosology 2023 [1]. Bars represent the number of cases per diagnostic category, illustrating the prevalence of each diagnostic group in our study.
