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

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

doi:10.1016/j.ejmg.2018.04.013

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

Date

2019

Authors

Simsek\\-Kiper, Pelin Ozlem

Korkmaz\\-Toygar, Ayse

Nishimura, Gen

Alikasifoglu, Mehmet

Boduroglu, Koray

dc.identifier.doi

10.1016/j.ejmg.2018.04.013

dc.identifier.other

WOS:000454833800004

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ELSEVIER SCIENCE BV

DOI

10.1016/j.ejmg.2018.04.013

Keywords

Spondylo\\-megaepiphyseal\\-metaphyseal dysplasia , Perinatal lethal , NKX3\\-2 , Defective vertebral ossification

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https://openaccess.acibadem.edu.tr/handle/11443/8123

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

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