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Article

A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate.

European journal of medical genetics - 1 Jan 2019

Simsek-Kiper Pelin Ozlem, Kosukcu Can, Akgun-Dogan Ozlem, Gocmen Rahsan, Utine Gulen Eda, Soyer Tutku, Korkmaz-Toygar Ayse, Nishimura Gen, Alikasifoglu Mehmet, Boduroglu Koray

Abstract excerpt

Spondylo-megaepiphyseal-metaphyseal dysplasia (SMMD) is an autosomal recessive skeletal dysplasia, characterized by disproportionate short stature with a short and stiff neck and trunk. SMMD is caused by inactivating mutations in NKX3-2, which encodes a homeobox-containing protein. Because of the rarity of the disorder, the diagnostic feature has not been fully established yet. We describe an affected newborn...

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PMID: 29704686
DOI: 10.1016/j.ejmg.2018.04.013

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