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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.
Affiliation
  • 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 in En | MEDLINE | ID: mdl-33288834

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Receptors, Atrial Natriuretic Factor / Genetic Predisposition to Disease / Dwarfism Type of study: Diagnostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country:

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Osteochondrodysplasias / Receptors, Atrial Natriuretic Factor / Genetic Predisposition to Disease / Dwarfism Type of study: Diagnostic_studies Limits: Child / Child, preschool / Female / Humans / Infant / Male Country/Region as subject: Asia Language: En Journal: J Hum Genet Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: