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Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Rehder, Helga; Laccone, Franco; Kircher, Susanne G; Schild, Ralf L; Rapp, Christiane; Bald, Rainer; Schulze, Bernt; Behunova, Jana; Neesen, Juergen; Schoner, Katharina.
Afiliação
  • Rehder H; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Laccone F; Institute of Pathology, Philipps University of Marburg, Marburg, Germany.
  • Kircher SG; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Schild RL; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Rapp C; Department of Obstetrics, Diacovere Friederikenstift, Hannover, Germany.
  • Bald R; Department of Praenatal Medicine, Klinikum Oldenburg, Oldenburg, Germany.
  • Schulze B; Clinic of Gynaecology and Obstetrics, Klinikum Leverkusen, Leverkusen, Germany.
  • Behunova J; Practice for Human Genetics, Hannover, Germany.
  • Neesen J; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
  • Schoner K; Institute of Medical Genetics, Medical University of Vienna, Vienna, Austria.
Am J Med Genet A ; 176(7): 1559-1568, 2018 07.
Article em En | MEDLINE | ID: mdl-29797497
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Doenças Fetais / Filaminas / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Áustria
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Osteocondrodisplasias / Doenças Fetais / Filaminas / Mutação Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Áustria