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Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
Simsek-Kiper, Pelin Ozlem; Urel-Demir, Gizem; Taskiran, Ekim Z; Arslan, Umut Ece; Nur, Banu; Mihci, Ercan; Haliloglu, Mithat; Alanay, Yasemin; Utine, Gulen Eda; Boduroglu, Koray.
Afiliación
  • Simsek-Kiper PO; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey. pelinozlemkiper@hacettepe.edu.tr.
  • Urel-Demir G; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Taskiran EZ; Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Arslan UE; Institute of Public Health, Hacettepe University, Ankara, Turkey.
  • Nur B; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
  • Mihci E; Department of Pediatric Genetics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
  • Haliloglu M; Department of Radiology, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Alanay Y; Department of Pediatric Genetics, Acibadem Mehmet Aydinlar University Faculty of Medicine, Istanbul, Turkey.
  • Utine GE; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
  • Boduroglu K; Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
J Hum Genet ; 66(6): 585-596, 2021 Jun.
Article en En | MEDLINE | ID: mdl-33288834
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Receptores del Factor Natriurético Atrial / Predisposición Genética a la Enfermedad / Enanismo Tipo de estudio: Diagnostic_studies País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Osteocondrodisplasias / Receptores del Factor Natriurético Atrial / Predisposición Genética a la Enfermedad / Enanismo Tipo de estudio: Diagnostic_studies País/Región como asunto: Asia Idioma: En Revista: J Hum Genet Asunto de la revista: GENETICA MEDICA Año: 2021 Tipo del documento: Article