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Case Report: Blepharophimosis and Ptosis as Leading Dysmorphic Features of Rare Congenital Malformation Syndrome With Developmental Delay - New Cases With TRAF7 Variants.
Paprocka, Justyna; Nowak, Magdalena; Niec, Maria; Janik, Izabela; Rydzanicz, Malgorzata; Robert, Smigiel; Klaniewska, Magdalena; Rutkowska, Karolina; Ploski, Rafal; Jezela-Stanek, Aleksandra.
Afiliação
  • Paprocka J; Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
  • Nowak M; Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
  • Niec M; Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
  • Janik I; Students' Scientific Society, Department of Pediatric Neurology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, Katowice, Poland.
  • Rydzanicz M; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Robert S; Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
  • Klaniewska M; Department of Paediatrics, Division of Propaedeutic of Paediatrics and Rare Disorders, Wroclaw Medical University, Wroclaw, Poland.
  • Rutkowska K; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Ploski R; Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.
  • Jezela-Stanek A; Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, Warsaw, Poland.
Front Med (Lausanne) ; 8: 708717, 2021.
Article em En | MEDLINE | ID: mdl-34513876
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Med (Lausanne) Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Front Med (Lausanne) Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Polônia