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RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects.

Authors
  • Jeanpierre, Cécile1
  • Macé, Guillaume
  • Parisot, Mélanie
  • Morinière, Vincent
  • Pawtowsky, Audrey
  • Benabou, Marion
  • Martinovic, Jelena
  • Amiel, Jeanne
  • Attié-Bitach, Tania
  • Delezoide, Anne-Lise
  • Loget, Philippe
  • Blanchet, Patricia
  • Gaillard, Dominique
  • Gonzales, Marie
  • Carpentier, Wassila
  • Nitschke, Patrick
  • Tores, Frédéric
  • Heidet, Laurence
  • Antignac, Corinne
  • Salomon, Rémi
Type
Published Article
Journal
Journal of Medical Genetics
Publisher
BMJ
Publication Date
Jul 01, 2011
Volume
48
Issue
7
Pages
497–504
Identifiers
DOI: 10.1136/jmg.2010.088526
PMID: 21490379
Source
Medline
License
Unknown

Abstract

These results suggest that genomic alteration of RET or GDNF is not a major mechanism leading to renal agenesis and other severe kidney development defects. Analysis of a larger series of patients will be necessary to validate the association of the RET intron 1 variant rs2506012 with renal development defects.

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