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Tibia hemimelia in a patient with CHARGE syndrome: A rare but recurrent phenomenon.
Aukema, Sietse M; de Geus, Christa M; Robben, Simon G F; van Kaam, Kim J A F; Staal, Heleen M; Witlox, Adhiambo M; de la Haye, Nicole A J; Klaassens, Merel; Coumans, Audrey; Stegmann, Alexander P A; Paley, Dror; Stumpel, Constance T R M.
Afiliação
  • Aukema SM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • de Geus CM; Department of Clinical Genetics, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
  • Robben SGF; Department of Radiology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • van Kaam KJAF; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Staal HM; Department of Orthopaedics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • Witlox AM; Department of Orthopaedics, Maastricht University Medical Centre, Maastricht, The Netherlands.
  • de la Haye NAJ; Department of Pediatrics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.
  • Klaassens M; Department of Pediatrics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.
  • Coumans A; Department of Obstetrics and Gynaecology, Maastricht University Medical Center, Maastricht, The Netherlands.
  • Stegmann APA; Department of Clinical Genetics and GROW-School for Oncology & Developmental Biology, Maastricht University Medical Center+, Maastricht, The Netherlands.
  • Paley D; Paley Orthopedic and Spine Institute, West Palm Beach, Florida, USA.
  • Stumpel CTRM; Department of Clinical Genetics and GROW-School for Oncology & Developmental Biology, Maastricht University Medical Center+, Maastricht, The Netherlands.
Am J Med Genet A ; 188(3): 1000-1004, 2022 03.
Article em En | MEDLINE | ID: mdl-34894067
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ectromelia / Síndrome CHARGE Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Ectromelia / Síndrome CHARGE Idioma: En Ano de publicação: 2022 Tipo de documento: Article