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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.
Afiliação
  • Simsek-Kiper PO; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: pelinozlem@hacettepe.edu.tr.
  • Kosukcu C; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Department of Bioinformatics, Institute of Health Sciences, Hacettepe University, Ankara, Turkey.
  • Akgun-Dogan O; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Gocmen R; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Utine GE; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Soyer T; Department of Pediatric Surgery, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Korkmaz-Toygar A; Division of Neonatalogy, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Division of Neonatalogy, Department of Pediatrics, Acibadem University Faculty of Medicine, Istanbul, Turkey.
  • Nishimura G; Department of Radiology, Tokyo Metropolitan Children's Medical Center, Tokyo, Japan.
  • Alikasifoglu M; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Boduroglu K; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
Eur J Med Genet ; 62(1): 21-26, 2019 Jan.
Article em En | MEDLINE | ID: mdl-29704686
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Fenótipo / Fatores de Transcrição / Proteínas de Homeodomínio / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Fenótipo / Fatores de Transcrição / Proteínas de Homeodomínio / Mutação Idioma: En Ano de publicação: 2019 Tipo de documento: Article