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Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand abnormal calcification type: Further expanding the mutational spectrum and dental findings of three new patients.
Akalin, Akçahan; Özsin, Cansu; Koç, Nagihan; Demir, Gizem Ürel; Alanay, Yasemin; Utine, Eda; Boduroglu, Koray; Tekçiçek, Meryem; Simsek-Kiper, Pelin Özlem.
Afiliación
  • Akalin A; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey. Electronic address: akcahanbalci@gmail.com.
  • Özsin C; Department of Pediatric Dentistry, Hacettepe University, Faculty of Dentistry, Ankara, Turkey.
  • Koç N; Department of Oral and Maxillofacial Radiology, Hacettepe University, Faculty of Dentistry, Ankara, Turkey.
  • Demir GÜ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
  • Alanay Y; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey; Department of Pediatric Genetics, Department of Pediatrics, Acibadem University, Faculty of Medicine, Istanbul, Turkey.
  • Utine E; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
  • Boduroglu K; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
  • Tekçiçek M; Department of Pediatric Dentistry, Hacettepe University, Faculty of Dentistry, Ankara, Turkey.
  • Simsek-Kiper PÖ; Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Eur J Med Genet ; 66(4): 104708, 2023 Apr.
Article en En | MEDLINE | ID: mdl-36720430
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Calcinosis / Enanismo Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Países Bajos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Calcinosis / Enanismo Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2023 Tipo del documento: Article Pais de publicación: Países Bajos