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Robust developmental novelty often results from polymorphisms or mutations in the regulatory regions of genes that control major morphogenetic signaling pathways [77]. It is much more unusual for developmental novelty to arise from mutations in the protein-coding region of such genes, because they often lead to embryonic death or catastrophic postnatal phenotypes.
The diagnosis of skeletal dysplasias is changing rapidly as molecular biology contributes to our understanding of their basis. Although the total number of dysplastic and inherited skeletal conditions is enormous, a few important ones with interest to the skeletal pathologist, radiologist, and surgeon are selected here for discussion.
Set the date range to filter the displayed results. You can set a starting date, ending date or both. You can enter the dates manually or choose them from the calendar.