Associated Papers
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.
Simsek-Kiper PO et al.
European Journal of Medical Genetics, 2019
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.
Hellemans J et al.
American Journal of Human Genetics, 2009
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