Lack of large, homozygous deletions of the nephronophthisis 1 region in Joubert syndrome type B

Pediatric Nephrology

Volumn 12, Issue 1, 1998, Pages 16-19

  Hildebrandt, Friedhelm ^a   Nothwang, Hans Gerd ^a   Vossmerbäumer, Urs ^a   Springer, Cornelia ^a   Strahm, Brigitte ^a   Hoppe, Bernd ^b   Keuth, Burkhard ^b   Fuchshuber, Arno ^a   Querfeld, Uwe ^b   Neuhaus, Thomas J ^c   Brandis, Matthias ^a  

^a UNIVERSITY OF FREIBURG   (Germany)

^b UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^c UNIVERSITY CHILDREN S HOSPITAL   (Switzerland)

Author keywords

Cerebellar vermis aplasia; Coloboma of the eye; Key words: Joubert syndrome; Nephronophthisis

Indexed keywords

EID: 0002445151     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s004670050394     Document Type: Article

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