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3. Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. Hellemans J, Simon M, Dheedene A, Alanay Y, Mihci E, Rifai L, Sefiani A, van Bever Y, Meradji M, Superti-Furga A, Mortier G. Am J Hum Genet; 2009 Dec; 85(6):916-22. PubMed ID: 20004766 [Abstract] [Full Text] [Related]
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