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Genotype-phenotype correlations
Original article
Rhizomelic chondrodysplasia punctata and cardiac pathology

Authors

  • Irene C Huffnagel Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Sally-Ann B Clur Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands PubMed articlesGoogle scholar articles
  • Annemieke M Bams-Mengerink Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Nico A Blom Department of Pediatric Cardiology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands Department of Pediatric Cardiology, Leiden University Medical Center, Leiden, The Netherlands PubMed articlesGoogle scholar articles
  • Ronald J A Wanders Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Hans R Waterham Laboratory of Genetic Metabolic Diseases, Academic Medical Centre, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  • Bwee Tien Poll-The Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, Amsterdam, The Netherlands PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Bwee Tien Poll-The, Department of Pediatric Neurology, Emma Children's Hospital, Academic Medical Centre, PO Box 2260, Amsterdam 1100 DD, The Netherlands; b.t.pollthe{at}amc.uva.nl
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Citation

Huffnagel IC, Clur SB, Bams-Mengerink AM, et al
Rhizomelic chondrodysplasia punctata and cardiac pathology
Journal of Medical Genetics 2013;50:419-424.

Publication history

  • Received January 17, 2013
  • Revised March 7, 2013
  • Accepted March 8, 2013
  • First published April 9, 2013.
Online issue publication 
April 27, 2016

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