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[Juvenile nephronophthisis with tapetoretinal degeneration, skeletal changes and special phenotypic traits].

AuthorsM Castro-Gago, P Meseguer Yebra, M J Fernández-Seara, A Alvarez Moreno, M Gil Calvo, A Rodríguez-Nuñez, P Pavón Belinchón
JournalAnales espanoles de pediatria (An Esp Pediatr) Vol. 45 Issue 1 Pg. 90-2 (Jul 1996) ISSN: 0302-4342 [Print] Spain
Vernacular TitleNefronoptisis juvenil con degeneración tapetorretiniana, alteraciones esqueléticas y rasgos fenotípicos especiales.
PMID8849142 (Publication Type: Case Reports, Journal Article, Review)
Topics
  • Bone Diseases, Developmental (diagnosis, genetics, therapy)
  • Combined Modality Therapy
  • Humans
  • Infant
  • Kidney Diseases, Cystic (diagnosis, genetics, therapy)
  • Kidney Medulla (pathology)
  • Male
  • Phenotype
  • Retinitis Pigmentosa (diagnosis, genetics, therapy)
  • Syndrome

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