<i>NEK1</i> and <i>DYNC2H1</i> are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

This study confirms that NEK1 is one gene causing SRP type II but also reports mutations in DYNC2H1, expanding the phenotypic spectrum of DYNC2H1 mutations. The exclusion of NEK1 and DYNC2H1 in 3/12 SRP type II and in all SRP type IV cases further support genetic heterogeneity.