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Co-occurrence of neurofibromatosis type 1 and pseudoachondroplasia - a first case report.
Pálla, Sára; Anker, Pálma; Farkas, Klára; Plázár, Dóra; Kiss, Sándor; Marschalkó, Péter; Szalai, Zsuzsanna; Bene, Judit; Hadzsiev, Kinga; Maróti, Zoltán; Kalmár, Tibor; Medvecz, Márta.
Afiliação
  • Pálla S; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, 1085, Hungary.
  • Anker P; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, 1085, Hungary.
  • Farkas K; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, 1085, Hungary.
  • Plázár D; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, 1085, Hungary.
  • Kiss S; Department of Orthopaedics, Semmelweis University, Budapest, 1085, Hungary.
  • Marschalkó P; Department of Paediatric Orthopaedics, Heim Pál National Children's Institute, Budapest, 1089, Hungary.
  • Szalai Z; Department of Paediatric Dermatology, Heim Pál National Children's Institute, Budapest, 1089, Hungary.
  • Bene J; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, 7623, Hungary.
  • Hadzsiev K; Department of Medical Genetics, Clinical Center, Medical School, University of Pécs, Pécs, 7623, Hungary.
  • Maróti Z; Genetic Diagnostic Laboratory, Department of Pediatrics, Faculty of Medicine, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, 6726, Hungary.
  • Kalmár T; Genetic Diagnostic Laboratory, Department of Pediatrics, Faculty of Medicine, Albert Szent-Györgyi Medical School, University of Szeged, Szeged, 6726, Hungary.
  • Medvecz M; Department of Dermatology, Venereology and Dermatooncology, Semmelweis University, Budapest, 1085, Hungary. medvecz.marta@med.semmelweis-univ.hu.
BMC Pediatr ; 23(1): 110, 2023 03 08.
Article em En | MEDLINE | ID: mdl-36890482
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acondroplasia / Neurofibromatose 1 Tipo de estudo: Diagnostic_studies Limite: Female / Humans Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Hungria
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Acondroplasia / Neurofibromatose 1 Tipo de estudo: Diagnostic_studies Limite: Female / Humans Idioma: En Revista: BMC Pediatr Assunto da revista: PEDIATRIA Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Hungria