RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders-Reference-Cited by-同舟云学术

RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders

Published:2008-06-28 Issue:2 Volume:74 Page:164-170
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Brancati F,Travaglini L,Zablocka D,Boltshauser E,Accorsi P,Montagna G,Silhavy JL,Barrano G,Bertini E,Emma F,Rigoli L,Dallapiccola B,Gleeson JG,Valente EM,

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2008.01047.x/fullpdf

Reference15 articles.

1. Molar tooth sign in Joubert syndrome: clinical, radiologic, and pathologic significance;Maria;J Child Neurol,1999

2. Genotypes and phenotypes of Joubert syndrome and related disorders;Valente;Eur J Med Genet,2008

3. CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders;Brancati;Am J Hum Genet,2007

4. Mutation analysis of NPHP6/CEP290 in patients with Joubert-Syndrome and Senior-Loken-Syndrome;Helou;J Med Genet,2007

5. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome;Parisi;Am J Hum Genet,2004

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