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Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

  • Published:2009-10 Issue:4 Volume:18 Page:209-212
  • ISSN:0962-8827
  • Container-title:Clinical Dysmorphology
  • language:en
  • Short-container-title:

Author:

Alessandri Jean-Luc,Cartault François,Brayer Claire,Cuillier Fabrice,Rivière Jean-Pierre,Ramful Duksha,Gubler Marie-Claire

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Genetics (clinical),General Medicine,Pathology and Forensic Medicine,Anatomy,Pediatrics, Perinatology and Child Health

Reference22 articles.

1. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development, and cardiac murmur;Alagille;J Pediat,1975

2. Angulated femurs and the skeletal dysplasias: experience of the International Skeletal Dysplasia Registry;Alanay;Am J Med Genet,2007

3. Congenital pancreatic hypoplasia associated with paucity of bile ducts and renal microcysts in an Arab Israeli family;Arnon;IMAJ,2004

4. Clinical aspects of defects in the determination of laterality;Aylsworth;Am J Med Genet,2001

5. The ciliopathies: a emerging class of human genetic disorders;Badano;Ann Rev Genomics Human Genet,2006

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