Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2-Reference-Cited by-同舟云学术

Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2

Published:2011-09-12 Issue:11 Volume:32 Page:1239-1242
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Isidor Bertrand,Le Merrer Martine,Exner G. Ulrich,Pichon Olivier,Thierry Gaelle,Guiochon-Mantel Anne,David Albert,Cormier-Daire Valérie,Le Caignec Cédric

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21563/fullpdf

Reference23 articles.

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2. Hajdu-Cheney syndrome: evolution of phenotype and clinical problems;Brennan;Am J Med Genet,2001

3. Notch2, but not Notch1, is required for proximal fate acquisition in the mammalian nephron;Cheng;Development,2007

4. Hajdu-Cheney syndrome associated with serpentine fibulae and polycystic kidney disease;Currarino;Pediatr Radiol,2009

5. Melnick-Needles syndrome (osteodysplasty). Clinical and radiological heterogeneity;Dereymaeker;Helv Paediatr Acta,1986

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