Associated Papers
Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations.
Wang Z et al.
Journal of Human Genetics, 2017
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J et al.
Journal of Medical Genetics, 2012
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